nsv4369318
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:20
- Validation:Not tested
- Clinical Assertions: No
- Region Size:166,934
- Publication(s):Zarrei et al. 2019
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: 911 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 1081 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 1393 SVs from 100 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4369318 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 142,618,896 | 142,785,829 |
| nsv4369318 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 656,734 | 781,128 |
| nsv4369318 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 142,326,410 | 142,493,638 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15642414 | copy number gain | 15-1117-004 | SNP array | Genotyping | 30 |
| nssv15653853 | copy number gain | 2-1568-001 | SNP array | Genotyping | 27 |
| nssv15666304 | copy number gain | 5-0124-001 | SNP array | Genotyping | 18 |
| nssv15672096 | copy number gain | 9-0013-002 | SNP array | Genotyping | 20 |
| nssv15672485 | copy number gain | 9-0006-003 | SNP array | Genotyping | 19 |
| nssv15674389 | copy number gain | 9-0034-003 | SNP array | Genotyping | 21 |
| nssv15675052 | copy number gain | 218105 | SNP array | Genotyping | 20 |
| nssv15675104 | copy number gain | 218106 | SNP array | Genotyping | 23 |
| nssv15675526 | copy number gain | 156385 | SNP array | Genotyping | 26 |
| nssv15676147 | copy number gain | 206764 | SNP array | Genotyping | 16 |
| nssv15676328 | copy number gain | 170786 | SNP array | Genotyping | 27 |
| nssv15677172 | copy number gain | 235973S | SNP array | Genotyping | 28 |
| nssv15679264 | copy number gain | 205647 | SNP array | Genotyping | 22 |
| nssv15679441 | copy number gain | 223295 | SNP array | Genotyping | 21 |
| nssv15682105 | copy number gain | 218112 | SNP array | Genotyping | 38 |
| nssv15685202 | copy number gain | OCD166-8961173 | SNP array | Genotyping | 13 |
| nssv15685634 | copy number gain | OCD168-8961233 | SNP array | Genotyping | 19 |
| nssv15687968 | copy number gain | 192220 | SNP array | Genotyping | 15 |
| nssv15689216 | copy number gain | 234384 | SNP array | Genotyping | 23 |
| nssv15695131 | copy number gain | 142112 | SNP array | Genotyping | 21 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15642414 | Remapped | Pass | NT_187562.1:g.(?_6 56734)_(781128_?)d up | GRCh38.p12 | First Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 656,734 | 781,128 |
| nssv15653853 | Remapped | Pass | NT_187562.1:g.(?_6 56734)_(781128_?)d up | GRCh38.p12 | First Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 656,734 | 781,128 |
| nssv15666304 | Remapped | Pass | NT_187562.1:g.(?_6 56734)_(781128_?)d up | GRCh38.p12 | First Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 656,734 | 781,128 |
| nssv15672096 | Remapped | Pass | NT_187562.1:g.(?_6 56734)_(781128_?)d up | GRCh38.p12 | First Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 656,734 | 781,128 |
| nssv15672485 | Remapped | Pass | NT_187562.1:g.(?_6 56734)_(781128_?)d up | GRCh38.p12 | First Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 656,734 | 781,128 |
| nssv15674389 | Remapped | Pass | NT_187562.1:g.(?_6 56734)_(781128_?)d up | GRCh38.p12 | First Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 656,734 | 781,128 |
| nssv15675052 | Remapped | Pass | NT_187562.1:g.(?_6 56734)_(781128_?)d up | GRCh38.p12 | First Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 656,734 | 781,128 |
| nssv15675104 | Remapped | Pass | NT_187562.1:g.(?_6 56734)_(781128_?)d up | GRCh38.p12 | First Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 656,734 | 781,128 |
| nssv15675526 | Remapped | Pass | NT_187562.1:g.(?_6 56734)_(781128_?)d up | GRCh38.p12 | First Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 656,734 | 781,128 |
| nssv15676147 | Remapped | Pass | NT_187562.1:g.(?_6 56734)_(781128_?)d up | GRCh38.p12 | First Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 656,734 | 781,128 |
| nssv15676328 | Remapped | Pass | NT_187562.1:g.(?_6 56734)_(781128_?)d up | GRCh38.p12 | First Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 656,734 | 781,128 |
| nssv15677172 | Remapped | Pass | NT_187562.1:g.(?_6 56734)_(781128_?)d up | GRCh38.p12 | First Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 656,734 | 781,128 |
| nssv15679264 | Remapped | Pass | NT_187562.1:g.(?_6 56734)_(781128_?)d up | GRCh38.p12 | First Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 656,734 | 781,128 |
| nssv15679441 | Remapped | Pass | NT_187562.1:g.(?_6 56734)_(781128_?)d up | GRCh38.p12 | First Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 656,734 | 781,128 |
| nssv15682105 | Remapped | Pass | NT_187562.1:g.(?_6 56734)_(781128_?)d up | GRCh38.p12 | First Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 656,734 | 781,128 |
| nssv15685202 | Remapped | Pass | NT_187562.1:g.(?_6 56734)_(781128_?)d up | GRCh38.p12 | First Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 656,734 | 781,128 |
| nssv15685634 | Remapped | Pass | NT_187562.1:g.(?_6 56734)_(781128_?)d up | GRCh38.p12 | First Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 656,734 | 781,128 |
| nssv15687968 | Remapped | Pass | NT_187562.1:g.(?_6 56734)_(781128_?)d up | GRCh38.p12 | First Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 656,734 | 781,128 |
| nssv15689216 | Remapped | Pass | NT_187562.1:g.(?_6 56734)_(781128_?)d up | GRCh38.p12 | First Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 656,734 | 781,128 |
| nssv15695131 | Remapped | Pass | NT_187562.1:g.(?_6 56734)_(781128_?)d up | GRCh38.p12 | First Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 656,734 | 781,128 |
| nssv15642414 | Remapped | Good | NC_000007.14:g.(?_ 142618896)_(142785 829_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,896 | 142,785,829 |
| nssv15653853 | Remapped | Good | NC_000007.14:g.(?_ 142618896)_(142785 829_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,896 | 142,785,829 |
| nssv15666304 | Remapped | Good | NC_000007.14:g.(?_ 142618896)_(142785 829_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,896 | 142,785,829 |
| nssv15672096 | Remapped | Good | NC_000007.14:g.(?_ 142618896)_(142785 829_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,896 | 142,785,829 |
| nssv15672485 | Remapped | Good | NC_000007.14:g.(?_ 142618896)_(142785 829_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,896 | 142,785,829 |
| nssv15674389 | Remapped | Good | NC_000007.14:g.(?_ 142618896)_(142785 829_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,896 | 142,785,829 |
| nssv15675052 | Remapped | Good | NC_000007.14:g.(?_ 142618896)_(142785 829_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,896 | 142,785,829 |
| nssv15675104 | Remapped | Good | NC_000007.14:g.(?_ 142618896)_(142785 829_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,896 | 142,785,829 |
| nssv15675526 | Remapped | Good | NC_000007.14:g.(?_ 142618896)_(142785 829_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,896 | 142,785,829 |
| nssv15676147 | Remapped | Good | NC_000007.14:g.(?_ 142618896)_(142785 829_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,896 | 142,785,829 |
| nssv15676328 | Remapped | Good | NC_000007.14:g.(?_ 142618896)_(142785 829_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,896 | 142,785,829 |
| nssv15677172 | Remapped | Good | NC_000007.14:g.(?_ 142618896)_(142785 829_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,896 | 142,785,829 |
| nssv15679264 | Remapped | Good | NC_000007.14:g.(?_ 142618896)_(142785 829_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,896 | 142,785,829 |
| nssv15679441 | Remapped | Good | NC_000007.14:g.(?_ 142618896)_(142785 829_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,896 | 142,785,829 |
| nssv15682105 | Remapped | Good | NC_000007.14:g.(?_ 142618896)_(142785 829_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,896 | 142,785,829 |
| nssv15685202 | Remapped | Good | NC_000007.14:g.(?_ 142618896)_(142785 829_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,896 | 142,785,829 |
| nssv15685634 | Remapped | Good | NC_000007.14:g.(?_ 142618896)_(142785 829_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,896 | 142,785,829 |
| nssv15687968 | Remapped | Good | NC_000007.14:g.(?_ 142618896)_(142785 829_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,896 | 142,785,829 |
| nssv15689216 | Remapped | Good | NC_000007.14:g.(?_ 142618896)_(142785 829_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,896 | 142,785,829 |
| nssv15695131 | Remapped | Good | NC_000007.14:g.(?_ 142618896)_(142785 829_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,896 | 142,785,829 |
| nssv15642414 | Submitted genomic | NC_000007.13:g.(?_ 142326410)_(142493 638_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,326,410 | 142,493,638 | ||
| nssv15653853 | Submitted genomic | NC_000007.13:g.(?_ 142326410)_(142493 638_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,326,410 | 142,493,638 | ||
| nssv15666304 | Submitted genomic | NC_000007.13:g.(?_ 142326410)_(142493 638_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,326,410 | 142,493,638 | ||
| nssv15672096 | Submitted genomic | NC_000007.13:g.(?_ 142326410)_(142493 638_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,326,410 | 142,493,638 | ||
| nssv15672485 | Submitted genomic | NC_000007.13:g.(?_ 142326410)_(142493 638_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,326,410 | 142,493,638 | ||
| nssv15674389 | Submitted genomic | NC_000007.13:g.(?_ 142326410)_(142493 638_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,326,410 | 142,493,638 | ||
| nssv15675052 | Submitted genomic | NC_000007.13:g.(?_ 142326410)_(142493 638_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,326,410 | 142,493,638 | ||
| nssv15675104 | Submitted genomic | NC_000007.13:g.(?_ 142326410)_(142493 638_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,326,410 | 142,493,638 | ||
| nssv15675526 | Submitted genomic | NC_000007.13:g.(?_ 142326410)_(142493 638_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,326,410 | 142,493,638 | ||
| nssv15676147 | Submitted genomic | NC_000007.13:g.(?_ 142326410)_(142493 638_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,326,410 | 142,493,638 | ||
| nssv15676328 | Submitted genomic | NC_000007.13:g.(?_ 142326410)_(142493 638_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,326,410 | 142,493,638 | ||
| nssv15677172 | Submitted genomic | NC_000007.13:g.(?_ 142326410)_(142493 638_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,326,410 | 142,493,638 | ||
| nssv15679264 | Submitted genomic | NC_000007.13:g.(?_ 142326410)_(142493 638_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,326,410 | 142,493,638 | ||
| nssv15679441 | Submitted genomic | NC_000007.13:g.(?_ 142326410)_(142493 638_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,326,410 | 142,493,638 | ||
| nssv15682105 | Submitted genomic | NC_000007.13:g.(?_ 142326410)_(142493 638_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,326,410 | 142,493,638 | ||
| nssv15685202 | Submitted genomic | NC_000007.13:g.(?_ 142326410)_(142493 638_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,326,410 | 142,493,638 | ||
| nssv15685634 | Submitted genomic | NC_000007.13:g.(?_ 142326410)_(142493 638_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,326,410 | 142,493,638 | ||
| nssv15687968 | Submitted genomic | NC_000007.13:g.(?_ 142326410)_(142493 638_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,326,410 | 142,493,638 | ||
| nssv15689216 | Submitted genomic | NC_000007.13:g.(?_ 142326410)_(142493 638_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,326,410 | 142,493,638 | ||
| nssv15695131 | Submitted genomic | NC_000007.13:g.(?_ 142326410)_(142493 638_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,326,410 | 142,493,638 |