nsv4404347
- Organism: Homo sapiens
- Study:nstd174 (DGV Gold Standard)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:60,457
- DGV: gssvG26808
- dbVar: essv7010128
- dbVar: essv7010130
- dbVar: essv7010131
- dbVar: essv7028478
- dbVar: essv7028484
- dbVar: essv7028485
- dbVar: essv7028486
- dbVar: nssv3616889
- dbVar: nssv3616923
- dbVar: nssv3616929
- dbVar: nssv3616930
- dbVar: nssv3616931
- dbVar: nssv3616933
- dbVar: nssv3616934
- dbVar: nssv3616935
- dbVar: nssv3616936
- dbVar: nssv3616937
- dbVar: nssv3616938
- dbVar: nssv3616941
- dbVar: nssv3616942
- dbVar: nssv3616943
- dbVar: nssv3616944
- dbVar: nssv3616945
- dbVar: nssv3616946
- dbVar: nssv3616947
- dbVar: nssv3616948
- dbVar: nssv3616949
- dbVar: nssv3616950
- dbVar: nssv3616953
- dbVar: nssv3616956
- dbVar: nssv3616957
- dbVar: nssv3616958
- dbVar: nssv3616959
- dbVar: nssv3616960
- dbVar: nssv3616961
- dbVar: nssv3616962
- dbVar: nssv3616963
- dbVar: nssv3616965
- dbVar: nssv3616966
- dbVar: nssv3616969
- dbVar: nssv3737125
- dbVar: nssv3737128
- dbVar: nssv3737129
- dbVar: nssv3737130
- dbVar: nssv3737131
- 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: 1630 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 1001 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 996 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 1003 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 1030 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 1053 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 985 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 1055 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 1634 SVs from 105 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4404347 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 195,695,406 | 195,702,929 | 195,747,526 | 195,755,487 |
nsv4404347 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NT_187691.1 | Chr3|NT_18 7691.1 | 39,249 | 39,249 | 99,705 | 99,705 |
nsv4404347 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 39,249 | 39,249 | 97,556 | 97,556 |
nsv4404347 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_6 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 39,249 | 39,249 | 98,268 | 98,268 |
nsv4404347 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_187678.1 | Chr3|NT_18 7678.1 | 40,564 | 40,564 | 100,638 | 100,638 |
nsv4404347 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NT_187689.1 | Chr3|NT_18 7689.1 | 65,903 | 73,426 | 118,023 | 125,984 |
nsv4404347 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187649.1 | Chr3|NT_18 7649.1 | 39,249 | 39,249 | 96,994 | 96,994 |
nsv4404347 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187532.1 | Chr3|NT_18 7532.1 | 65,903 | 73,426 | 118,023 | 125,984 |
nsv4404347 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 195,422,277 | 195,429,800 | 195,474,397 | 195,482,358 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15711370 | copy number gain | Multiple | Multiple |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15711370 | Remapped | Good | NT_187688.1:g.(392 49_39249)_(97556_9 7556)dup | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 39,249 | 39,249 | 97,556 | 97,556 |
nssv15711370 | Remapped | Good | NT_187690.1:g.(392 49_39249)_(98268_9 8268)dup | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 39,249 | 39,249 | 98,268 | 98,268 |
nssv15711370 | Remapped | Good | NT_187691.1:g.(392 49_39249)_(99705_9 9705)dup | GRCh38.p12 | Second Pass | NT_187691.1 | Chr3|NT_18 7691.1 | 39,249 | 39,249 | 99,705 | 99,705 |
nssv15711370 | Remapped | Good | NT_187678.1:g.(405 64_40564)_(100638_ 100638)dup | GRCh38.p12 | Second Pass | NT_187678.1 | Chr3|NT_18 7678.1 | 40,564 | 40,564 | 100,638 | 100,638 |
nssv15711370 | Remapped | Perfect | NT_187689.1:g.(659 03_73426)_(118023_ 125984)dup | GRCh38.p12 | Second Pass | NT_187689.1 | Chr3|NT_18 7689.1 | 65,903 | 73,426 | 118,023 | 125,984 |
nssv15711370 | Remapped | Good | NT_187649.1:g.(392 49_39249)_(96994_9 6994)dup | GRCh38.p12 | Second Pass | NT_187649.1 | Chr3|NT_18 7649.1 | 39,249 | 39,249 | 96,994 | 96,994 |
nssv15711370 | Remapped | Perfect | NT_187532.1:g.(659 03_73426)_(118023_ 125984)dup | GRCh38.p12 | Second Pass | NT_187532.1 | Chr3|NT_18 7532.1 | 65,903 | 73,426 | 118,023 | 125,984 |
nssv15711370 | Remapped | Perfect | NC_000003.12:g.(19 5695406_195702929) _(195747526_195755 487)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,695,406 | 195,702,929 | 195,747,526 | 195,755,487 |
nssv15711370 | Submitted genomic | NC_000003.11:g.(19 5422277_195429800) _(195474397_195482 358)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,422,277 | 195,429,800 | 195,474,397 | 195,482,358 |