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dbVar

Database of genomic structural variation

nsv3333807

Organism: Homo sapiens

Study:nstd162 (Audano et al. 2019)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38 (hg38)

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:8,793

Publication(s):Audano et al. 2019

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 165 SVs from 45 studies. See in: genome view

Submitted genomic94,168,314-94,177,106

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3333807	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000011.10	Chr11	94,168,314	94,177,106
nsv3333807	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	93,901,480	93,910,272

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14513148	deletion	SAMN05603745	Sequencing	de novo and local sequence assembly	27,447
nssv14514474	deletion	SAMN06885952	Sequencing	de novo and local sequence assembly	28,070
nssv14523754	deletion	SAMN04251426	Sequencing	de novo and local sequence assembly	22,074

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14513148	Submitted genomic		NC_000011.10:g.941 68314_94177106del	GRCh38 (hg38)		NC_000011.10	Chr11	94,168,314	94,177,106
nssv14514474	Submitted genomic		NC_000011.10:g.941 68314_94177106del	GRCh38 (hg38)		NC_000011.10	Chr11	94,168,314	94,177,106
nssv14523754	Submitted genomic		NC_000011.10:g.941 68314_94177106del	GRCh38 (hg38)		NC_000011.10	Chr11	94,168,314	94,177,106
nssv14513148	Remapped	Perfect	NC_000011.9:g.9390 1480_93910272delNC _000011.9:g.939014 80_93910272del	GRCh37.p13	First Pass	NC_000011.9	Chr11	93,901,480	93,910,272
nssv14514474	Remapped	Perfect	NC_000011.9:g.9390 1480_93910272delNC _000011.9:g.939014 80_93910272del	GRCh37.p13	First Pass	NC_000011.9	Chr11	93,901,480	93,910,272
nssv14523754	Remapped	Perfect	NC_000011.9:g.9390 1480_93910272delNC _000011.9:g.939014 80_93910272del	GRCh37.p13	First Pass	NC_000011.9	Chr11	93,901,480	93,910,272

Showing 6 of 9

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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