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nstd50 (Arlt et al. 2011)

Organism:
Human
Study Type:
Control Set
Submitter:
Thomas Wilson
Description:
To compare available whole-genome approaches for scoring genome structural variation, data from both 1M feature single-nucleotide polymorphism (SNP) arrays and low-density mate-pair sequencing were mined using a new computational platform, VAMP, to detect both constitutional CNVs in a single individual as well as de novo CNVs induced by the replication stressor aphidicolin. See Variant Summary counts for nstd50 in dbVar Variant Summary.
Publication(s):
Arlt et al. 2011

Detailed Information: Download 2637 Variant Regions, Download 2637 Variant Calls, Download Both, FTP

Variant Summary

Assembly used for analysis:
Remapped: GRCh38.p12 (hg38)
Remapped: GRCh37.p13 (hg19)
Submitted: NCBI36 (hg18)

Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000001.11Chr1181181RemappedNC_000001.11
NC_000002.12Chr2171171RemappedNC_000002.12
NC_000003.12Chr3159159RemappedNC_000003.12
NC_000004.12Chr4165165RemappedNC_000004.12
NC_000005.10Chr5143143RemappedNC_000005.10
NC_000006.12Chr6194194RemappedNC_000006.12
NC_000007.14Chr7143143RemappedNC_000007.14
NC_000008.11Chr8140140RemappedNC_000008.11
NC_000009.12Chr9104104RemappedNC_000009.12
NC_000010.11Chr10120120RemappedNC_000010.11
NC_000011.10Chr11129129RemappedNC_000011.10
NC_000012.12Chr12117117RemappedNC_000012.12
NC_000013.11Chr139090RemappedNC_000013.11
NC_000014.9Chr147373RemappedNC_000014.9
NC_000015.10Chr156565RemappedNC_000015.10
NC_000016.10Chr168686RemappedNC_000016.10
NC_000017.11Chr17103103RemappedNC_000017.11
NC_000018.10Chr186666RemappedNC_000018.10
NC_000019.10Chr199595RemappedNC_000019.10
NC_000020.11Chr206767RemappedNC_000020.11
NC_000021.9Chr213939RemappedNC_000021.9
NC_000022.11Chr225555RemappedNC_000022.11
NC_000023.11ChrX104104RemappedNC_000023.11
NT_187519.1Chr1|NT_187519.133RemappedNT_187519.1
NW_003315907.2Chr1|NW_003315907.211RemappedNW_003315907.2
NW_009646195.1Chr1|NW_009646195.111RemappedNW_009646195.1
NW_011332688.1Chr1|NW_011332688.144RemappedNW_011332688.1
NW_012132914.1Chr1|NW_012132914.111RemappedNW_012132914.1
NW_014040926.1Chr1|NW_014040926.111RemappedNW_014040926.1
NW_018654707.1Chr1|NW_018654707.133RemappedNW_018654707.1
NW_018654708.1Chr1|NW_018654708.111RemappedNW_018654708.1
NW_019805487.1Chr1|NW_019805487.111RemappedNW_019805487.1
NT_187527.1Chr2|NT_187527.111RemappedNT_187527.1
NT_187529.1Chr2|NT_187529.166RemappedNT_187529.1
NW_012132915.1Chr2|NW_012132915.111RemappedNW_012132915.1
NT_187539.1Chr3|NT_187539.122RemappedNT_187539.1
NW_009646197.1Chr3|NW_009646197.122RemappedNW_009646197.1
NT_187679.1Chr4|NT_187679.133RemappedNT_187679.1
NT_187543.1Chr4|NT_187543.122RemappedNT_187543.1
NT_187650.1Chr4|NT_187650.122RemappedNT_187650.1
NW_003315915.1Chr4|NW_003315915.122RemappedNW_003315915.1
NT_187548.1Chr5|NT_187548.122RemappedNT_187548.1
NT_187550.1Chr5|NT_187550.111RemappedNT_187550.1
NT_187651.1Chr5|NT_187651.122RemappedNT_187651.1
NW_009646199.1Chr5|NW_009646199.111RemappedNW_009646199.1
NW_016107298.1Chr5|NW_016107298.111RemappedNW_016107298.1
NT_187692.1Chr6|NT_187692.111RemappedNT_187692.1
NT_167246.2Chr6|NT_167246.21616RemappedNT_167246.2
NT_167247.2Chr6|NT_167247.21515RemappedNT_167247.2
NT_167249.2Chr6|NT_167249.21010RemappedNT_167249.2
NT_167245.2Chr6|NT_167245.233RemappedNT_167245.2
NT_167244.2Chr6|NT_167244.211RemappedNT_167244.2
NT_187552.1Chr6|NT_187552.111RemappedNT_187552.1
NT_187553.1Chr6|NT_187553.122RemappedNT_187553.1
NT_187555.1Chr6|NT_187555.111RemappedNT_187555.1
NT_187558.1Chr7|NT_187558.111RemappedNT_187558.1
NT_187560.1Chr7|NT_187560.111RemappedNT_187560.1
NT_187562.1Chr7|NT_187562.111RemappedNT_187562.1
NT_187563.1Chr7|NT_187563.111RemappedNT_187563.1
NT_187564.1Chr7|NT_187564.111RemappedNT_187564.1
NT_187653.1Chr7|NT_187653.111RemappedNT_187653.1
NW_012132919.1Chr7|NW_012132919.111RemappedNW_012132919.1
NW_017852930.1Chr7|NW_017852930.111RemappedNW_017852930.1
NT_187680.1Chr8|NT_187680.122RemappedNT_187680.1
NT_187565.1Chr8|NT_187565.133RemappedNT_187565.1
NT_187568.1Chr8|NT_187568.122RemappedNT_187568.1
NT_187571.1Chr8|NT_187571.111RemappedNT_187571.1
NT_187573.1Chr8|NT_187573.111RemappedNT_187573.1
NT_187576.1Chr8|NT_187576.166RemappedNT_187576.1
NT_187654.1Chr8|NT_187654.122RemappedNT_187654.1
NT_187655.1Chr8|NT_187655.111RemappedNT_187655.1
NW_018654716.1Chr8|NW_018654716.111RemappedNW_018654716.1
NW_018654717.1Chr8|NW_018654717.133RemappedNW_018654717.1
NW_009646201.1Chr9|NW_009646201.122RemappedNW_009646201.1
NT_187681.1Chr11|NT_187681.166RemappedNT_187681.1
NT_187656.1Chr11|NT_187656.133RemappedNT_187656.1
NT_187657.1Chr11|NT_187657.122RemappedNT_187657.1
NT_187581.1Chr11|NT_187581.111RemappedNT_187581.1
NT_187584.1Chr11|NT_187584.122RemappedNT_187584.1
NT_187586.1Chr11|NT_187586.111RemappedNT_187586.1
NW_015148966.1Chr11|NW_015148966.144RemappedNW_015148966.1
NW_003315940.1Chr12|NW_003315940.111RemappedNW_003315940.1
NW_003571050.1Chr12|NW_003571050.111RemappedNW_003571050.1
NW_011332696.1Chr12|NW_011332696.111RemappedNW_011332696.1
NW_018654718.1Chr12|NW_018654718.111RemappedNW_018654718.1
NW_019805499.1Chr12|NW_019805499.111RemappedNW_019805499.1
NT_187592.1Chr13|NT_187592.111RemappedNT_187592.1
NT_187594.1Chr13|NT_187594.111RemappedNT_187594.1
NW_009646205.1Chr13|NW_009646205.111RemappedNW_009646205.1
NW_011332698.1Chr13|NW_011332698.133RemappedNW_011332698.1
NW_011332699.1Chr13|NW_011332699.111RemappedNW_011332699.1
NW_013171811.1Chr13|NW_013171811.111RemappedNW_013171811.1
NT_187600.1Chr14|NT_187600.144RemappedNT_187600.1
NT_187601.1Chr14|NT_187601.122RemappedNT_187601.1
NW_018654722.1Chr14|NW_018654722.122RemappedNW_018654722.1
NT_187660.1Chr15|NT_187660.133RemappedNT_187660.1
NW_011332701.1Chr15|NW_011332701.133RemappedNW_011332701.1
NT_187609.1Chr16|NT_187609.111RemappedNT_187609.1
NW_019805500.1Chr16|NW_019805500.111RemappedNW_019805500.1
NT_187661.1Chr17|NT_187661.111RemappedNT_187661.1
NT_187662.1Chr17|NT_187662.133RemappedNT_187662.1
NT_187664.1Chr17|NT_187664.111RemappedNT_187664.1
NW_003871093.1Chr17|NW_003871093.111RemappedNW_003871093.1
NT_187611.1Chr17|NT_187611.122RemappedNT_187611.1
NT_187612.1Chr17|NT_187612.111RemappedNT_187612.1
NT_187613.1Chr17|NT_187613.122RemappedNT_187613.1
NT_187614.1Chr17|NT_187614.133RemappedNT_187614.1
NW_003315952.3Chr17|NW_003315952.333RemappedNW_003315952.3
NW_003315954.1Chr17|NW_003315954.111RemappedNW_003315954.1
NW_017363817.1Chr17|NW_017363817.111RemappedNW_017363817.1
NW_017363819.1Chr17|NW_017363819.122RemappedNW_017363819.1
NT_187665.1Chr18|NT_187665.111RemappedNT_187665.1
NT_187666.1Chr18|NT_187666.111RemappedNT_187666.1
NW_003315958.1Chr18|NW_003315958.111RemappedNW_003315958.1
NW_003315959.1Chr18|NW_003315959.111RemappedNW_003315959.1
NW_003315961.1Chr18|NW_003315961.111RemappedNW_003315961.1
NT_187693.1Chr19|NT_187693.155RemappedNT_187693.1
NW_003571061.2Chr19|NW_003571061.222RemappedNW_003571061.2
NW_003571057.2Chr19|NW_003571057.211RemappedNW_003571057.2
NW_003571058.2Chr19|NW_003571058.211RemappedNW_003571058.2
NW_003571059.2Chr19|NW_003571059.211RemappedNW_003571059.2
NW_003571060.1Chr19|NW_003571060.144RemappedNW_003571060.1
NW_003571056.2Chr19|NW_003571056.211RemappedNW_003571056.2
NW_003571055.2Chr19|NW_003571055.233RemappedNW_003571055.2
NT_187621.1Chr19|NT_187621.111RemappedNT_187621.1
NT_187622.1Chr19|NT_187622.122RemappedNT_187622.1
NW_003315964.2Chr19|NW_003315964.211RemappedNW_003315964.2
NW_003571054.1Chr19|NW_003571054.144RemappedNW_003571054.1
NW_009646206.1Chr19|NW_009646206.111RemappedNW_009646206.1
NT_187624.1Chr20|NT_187624.111RemappedNT_187624.1
NT_187626.1Chr21|NT_187626.111RemappedNT_187626.1
NT_187628.1Chr21|NT_187628.133RemappedNT_187628.1
NW_015148969.1Chr22|NW_015148969.122RemappedNW_015148969.1
NT_187630.1Chr22|NT_187630.111RemappedNT_187630.1
NT_187633.1Chr22|NT_187633.155RemappedNT_187633.1
NW_003315972.2Chr22|NW_003315972.222RemappedNW_003315972.2
Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000001.10Chr1183183RemappedNC_000001.10
NC_000002.11Chr2173173RemappedNC_000002.11
NC_000003.11Chr3160160RemappedNC_000003.11
NC_000004.11Chr4164164RemappedNC_000004.11
NC_000005.9Chr5143143RemappedNC_000005.9
NC_000006.11Chr6194194RemappedNC_000006.11
NC_000007.13Chr7144144RemappedNC_000007.13
NC_000008.10Chr8141141RemappedNC_000008.10
NC_000009.11Chr9105105RemappedNC_000009.11
NC_000010.10Chr10121121RemappedNC_000010.10
NC_000011.9Chr11130130RemappedNC_000011.9
NC_000012.11Chr12117117RemappedNC_000012.11
NC_000013.10Chr139191RemappedNC_000013.10
NC_000014.8Chr147676RemappedNC_000014.8
NC_000015.9Chr156565RemappedNC_000015.9
NC_000016.9Chr168686RemappedNC_000016.9
NC_000017.10Chr17101101RemappedNC_000017.10
NC_000018.9Chr186666RemappedNC_000018.9
NC_000019.9Chr199595RemappedNC_000019.9
NC_000020.10Chr206767RemappedNC_000020.10
NC_000021.8Chr213939RemappedNC_000021.8
NC_000022.10Chr225757RemappedNC_000022.10
NC_000023.10ChrX105105RemappedNC_000023.10
NW_003315907.1Chr1|NW_003315907.111RemappedNW_003315907.1
NW_003871055.3Chr1|NW_003871055.344RemappedNW_003871055.3
NW_003871056.3Chr1|NW_003871056.311RemappedNW_003871056.3
NW_003571032.1Chr2|NW_003571032.133RemappedNW_003571032.1
NW_004504299.1Chr2|NW_004504299.111RemappedNW_004504299.1
NW_003315915.1Chr4|NW_003315915.122RemappedNW_003315915.1
NW_003571034.1Chr4|NW_003571034.122RemappedNW_003571034.1
NW_003571035.1Chr4|NW_003571035.111RemappedNW_003571035.1
NT_167244.1Chr6|NT_167244.111RemappedNT_167244.1
NT_167245.1Chr6|NT_167245.144RemappedNT_167245.1
NT_167246.1Chr6|NT_167246.11616RemappedNT_167246.1
NT_167247.1Chr6|NT_167247.11515RemappedNT_167247.1
NT_167249.1Chr6|NT_167249.11111RemappedNT_167249.1
NW_004504300.1Chr6|NW_004504300.122RemappedNW_004504300.1
NW_003571040.1Chr7|NW_003571040.111RemappedNW_003571040.1
NW_003871064.1Chr7|NW_003871064.177RemappedNW_003871064.1
NW_003315923.1Chr8|NW_003315923.122RemappedNW_003315923.1
NW_003315924.1Chr8|NW_003315924.111RemappedNW_003315924.1
NW_003571042.1Chr8|NW_003571042.144RemappedNW_003571042.1
NW_004775431.1Chr8|NW_004775431.111RemappedNW_004775431.1
NW_003315925.1Chr9|NW_003315925.111RemappedNW_003315925.1
NW_004070868.1Chr9|NW_004070868.111RemappedNW_004070868.1
NW_003871068.1Chr10|NW_003871068.111RemappedNW_003871068.1
NW_003571045.1Chr11|NW_003571045.122RemappedNW_003571045.1
NW_003871081.1Chr11|NW_003871081.111RemappedNW_003871081.1
NW_003315937.1Chr12|NW_003315937.111RemappedNW_003315937.1
NW_003315940.1Chr12|NW_003315940.111RemappedNW_003315940.1
NW_003571050.1Chr12|NW_003571050.111RemappedNW_003571050.1
NW_003871083.2Chr12|NW_003871083.244RemappedNW_003871083.2
NW_004166863.1Chr14|NW_004166863.144RemappedNW_004166863.1
NW_003871084.1Chr15|NW_003871084.122RemappedNW_003871084.1
NW_003315950.2Chr17|NW_003315950.255RemappedNW_003315950.2
NW_003315954.1Chr17|NW_003315954.111RemappedNW_003315954.1
NW_003871089.1Chr17|NW_003871089.111RemappedNW_003871089.1
NW_003871090.1Chr17|NW_003871090.122RemappedNW_003871090.1
NW_003871093.1Chr17|NW_003871093.111RemappedNW_003871093.1
NW_004070872.2Chr17|NW_004070872.244RemappedNW_004070872.2
NW_003315958.1Chr18|NW_003315958.111RemappedNW_003315958.1
NW_003315959.1Chr18|NW_003315959.111RemappedNW_003315959.1
NW_003315961.1Chr18|NW_003315961.111RemappedNW_003315961.1
NW_003315964.2Chr19|NW_003315964.211RemappedNW_003315964.2
NW_004166865.1Chr19|NW_004166865.111RemappedNW_004166865.1
NW_003571063.2Chr20|NW_003571063.222RemappedNW_003571063.2
NW_003315972.1Chr22|NW_003315972.122RemappedNW_003315972.1
NW_003871096.1Chr22|NW_003871096.111RemappedNW_003871096.1
NW_004070873.1Chr22|NW_004070873.111RemappedNW_004070873.1
NW_003571064.2ChrX|NW_003571064.211RemappedNW_003571064.2
NW_003871101.3ChrX|NW_003871101.322RemappedNW_003871101.3
NW_003871103.3ChrX|NW_003871103.333RemappedNW_003871103.3
NW_004070879.1ChrX|NW_004070879.122RemappedNW_004070879.1
NW_004070880.2ChrX|NW_004070880.255RemappedNW_004070880.2
NW_004070887.1ChrX|NW_004070887.111RemappedNW_004070887.1
NW_004070888.1ChrX|NW_004070888.122RemappedNW_004070888.1
NW_004070889.1ChrX|NW_004070889.111RemappedNW_004070889.1
NW_004070890.2ChrX|NW_004070890.288RemappedNW_004070890.2
NW_004070891.1ChrX|NW_004070891.144RemappedNW_004070891.1
NW_004166866.1ChrX|NW_004166866.133RemappedNW_004166866.1
Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000001.9Chr1183183SubmittedNC_000001.9
NC_000002.10Chr2173173SubmittedNC_000002.10
NC_000003.10Chr3160160SubmittedNC_000003.10
NC_000004.10Chr4165165SubmittedNC_000004.10
NC_000005.8Chr5143143SubmittedNC_000005.8
NC_000006.10Chr6194194SubmittedNC_000006.10
NC_000007.12Chr7145145SubmittedNC_000007.12
NC_000008.9Chr8143143SubmittedNC_000008.9
NC_000009.10Chr9105105SubmittedNC_000009.10
NC_000010.9Chr10122122SubmittedNC_000010.9
NC_000011.8Chr11130130SubmittedNC_000011.8
NC_000012.10Chr12117117SubmittedNC_000012.10
NC_000013.9Chr139191SubmittedNC_000013.9
NC_000014.7Chr147676SubmittedNC_000014.7
NC_000015.8Chr156565SubmittedNC_000015.8
NC_000016.8Chr168686SubmittedNC_000016.8
NC_000017.9Chr17108108SubmittedNC_000017.9
NC_000018.8Chr186666SubmittedNC_000018.8
NC_000019.8Chr199696SubmittedNC_000019.8
NC_000020.9Chr206767SubmittedNC_000020.9
NC_000021.7Chr213939SubmittedNC_000021.7
NC_000022.9Chr225858SubmittedNC_000022.9
NC_000023.9ChrX105105SubmittedNC_000023.9

Variant Region remap statusVariant Call remap status
Sequence IDChrVariant Regions on sourcePerfectGoodPassFailMultVariant Calls on sourcePerfectGoodPassFailMult
NC_000001.9Chr118317810041831781004
NC_000002.10Chr217316810041731681004
NC_000003.10Chr316015820001601582000
NC_000004.10Chr416516001041651600104
NC_000005.8Chr514314300001431430000
NC_000006.10Chr61941670102619416701026
NC_000007.12Chr714513422071451342207
NC_000008.9Chr814313700061431370006
NC_000009.10Chr910510200031051020003
NC_000010.9Chr1012211901111221190111
NC_000011.8Chr1113012610031301261003
NC_000012.10Chr1211711000071171100007
NC_000013.9Chr139191000091910000
NC_000014.7Chr147670010576700105
NC_000015.8Chr156562000365620003
NC_000016.8Chr168685010086850100
NC_000017.9Chr17108980118108980118
NC_000018.8Chr186663000366630003
NC_000019.8Chr199695000196950001
NC_000020.9Chr206765000267650002
NC_000021.7Chr213939000039390000
NC_000022.9Chr225852021358520213
NC_000023.9ChrX10573000321057300032
Variant Region remap statusVariant Call remap status
Sequence IDChrVariant Regions on sourcePerfectGoodPassFailMultVariant Calls on sourcePerfectGoodPassFailMult
NC_000001.9Chr11831605211518316052115
NC_000002.10Chr217315931281731593128
NC_000003.10Chr316015320141601532014
NC_000004.10Chr416515531061651553106
NC_000005.8Chr514313700061431370006
NC_000006.10Chr61941612302819416123028
NC_000007.12Chr714513053161451305316
NC_000008.9Chr81431240201714312402017
NC_000009.10Chr910510300021051030002
NC_000010.9Chr1012211811201221181120
NC_000011.8Chr111301171111013011711110
NC_000012.10Chr1211710822051171082205
NC_000013.9Chr139185000691850006
NC_000014.7Chr147662033876620338
NC_000015.8Chr156561100365611003
NC_000016.8Chr168682110286821102
NC_000017.9Chr1710885143151088514315
NC_000018.8Chr186663000366630003
NC_000019.8Chr19968320110968320110
NC_000020.9Chr206764200167642001
NC_000021.7Chr213932110539321105
NC_000022.9Chr22583915310583915310
NC_000023.9ChrX105937410105937410

Samplesets

Number of Samplesets: 1

Name:
HGMDFN090
Description:
Cell line HGMDFN090 from the Progeria Research Foundation.
Size:
1
Organisms:
Homo sapiens
Sampleset Phenotype(s):
None reported
Sex:
Female
  • Download Samples as CSV file
  • Samples for sampleset 1
    Sample IDCell TypeSubject ID SexEthnicitySubject Phenotype
    1fibroblast1FemaleEuropean caucasianNot reported

    Experimental Details

    Experiment IDTypeMethodAnalysisPlatformsDataNumber of Variant Calls
    1DiscoverySNP arraySNP genotyping analysisIllumina HumanOmni1-Quad BeadChipGEO546
    2DiscoverySequencingPaired-end mappingSRA2,091

    Validations

    No validation data were submitted for this study.

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