nsv4374387
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:10
- Validation:Not tested
- Clinical Assertions: No
- Region Size:102,787
- 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: 341 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 595 SVs from 67 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4374387 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,186,838 | 2,289,624 |
| nsv4374387 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 36,307,773 | 36,410,559 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15626843 | copy number loss | 1-0456-001 | SNP array | Genotyping | 23 |
| nssv15633791 | copy number gain | 10-1129-002 | SNP array | Genotyping | 26 |
| nssv15633816 | copy number gain | 10-1129-005 | SNP array | Genotyping | 28 |
| nssv15636952 | copy number gain | 14-0020-002 | SNP array | Genotyping | 28 |
| nssv15637004 | copy number gain | 14-0020-004 | SNP array | Genotyping | 34 |
| nssv15641460 | copy number gain | 14-0351-002 | SNP array | Genotyping | 20 |
| nssv15642145 | copy number gain | 16-1001-002 | SNP array | Genotyping | 27 |
| nssv15651939 | copy number gain | 2-1497-003 | SNP array | Genotyping | 21 |
| nssv15674293 | copy number gain | 9-0033-002 | SNP array | Genotyping | 22 |
| nssv15696989 | copy number gain | 126715 | SNP array | Genotyping | 21 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15626843 | Remapped | Perfect | NT_187614.1:g.(?_2 186838)_(2289624_? )del | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,186,838 | 2,289,624 |
| nssv15633791 | Remapped | Perfect | NT_187614.1:g.(?_2 186838)_(2289624_? )dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,186,838 | 2,289,624 |
| nssv15633816 | Remapped | Perfect | NT_187614.1:g.(?_2 186838)_(2289624_? )dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,186,838 | 2,289,624 |
| nssv15636952 | Remapped | Perfect | NT_187614.1:g.(?_2 186838)_(2289624_? )dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,186,838 | 2,289,624 |
| nssv15637004 | Remapped | Perfect | NT_187614.1:g.(?_2 186838)_(2289624_? )dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,186,838 | 2,289,624 |
| nssv15641460 | Remapped | Perfect | NT_187614.1:g.(?_2 186838)_(2289624_? )dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,186,838 | 2,289,624 |
| nssv15642145 | Remapped | Perfect | NT_187614.1:g.(?_2 186838)_(2289624_? )dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,186,838 | 2,289,624 |
| nssv15651939 | Remapped | Perfect | NT_187614.1:g.(?_2 186838)_(2289624_? )dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,186,838 | 2,289,624 |
| nssv15674293 | Remapped | Perfect | NT_187614.1:g.(?_2 186838)_(2289624_? )dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,186,838 | 2,289,624 |
| nssv15696989 | Remapped | Perfect | NT_187614.1:g.(?_2 186838)_(2289624_? )dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,186,838 | 2,289,624 |
| nssv15626843 | Submitted genomic | NC_000017.10:g.(?_ 36307773)_(3641055 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,307,773 | 36,410,559 | ||
| nssv15633791 | Submitted genomic | NC_000017.10:g.(?_ 36307773)_(3641055 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,307,773 | 36,410,559 | ||
| nssv15633816 | Submitted genomic | NC_000017.10:g.(?_ 36307773)_(3641055 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,307,773 | 36,410,559 | ||
| nssv15636952 | Submitted genomic | NC_000017.10:g.(?_ 36307773)_(3641055 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,307,773 | 36,410,559 | ||
| nssv15637004 | Submitted genomic | NC_000017.10:g.(?_ 36307773)_(3641055 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,307,773 | 36,410,559 | ||
| nssv15641460 | Submitted genomic | NC_000017.10:g.(?_ 36307773)_(3641055 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,307,773 | 36,410,559 | ||
| nssv15642145 | Submitted genomic | NC_000017.10:g.(?_ 36307773)_(3641055 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,307,773 | 36,410,559 | ||
| nssv15651939 | Submitted genomic | NC_000017.10:g.(?_ 36307773)_(3641055 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,307,773 | 36,410,559 | ||
| nssv15674293 | Submitted genomic | NC_000017.10:g.(?_ 36307773)_(3641055 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,307,773 | 36,410,559 | ||
| nssv15696989 | Submitted genomic | NC_000017.10:g.(?_ 36307773)_(3641055 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,307,773 | 36,410,559 |