nsv4385603
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:12
- Validation:Not tested
- Clinical Assertions: No
- Region Size:25,347
- 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: 1902 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 920 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 1598 SVs from 92 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4385603 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 46,110,944 | 46,136,283 |
| nsv4385603 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 813,043 | 838,389 |
| nsv4385603 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 44,188,310 | 44,213,649 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15621629 | copy number gain | 1-1006-003 | SNP array | Genotyping | 22 |
| nssv15623093 | copy number gain | 1-1053-003 | SNP array | Genotyping | 17 |
| nssv15627829 | copy number gain | 1-0449-003 | SNP array | Genotyping | 12 |
| nssv15628340 | copy number gain | 1-0514-001 | SNP array | Genotyping | 17 |
| nssv15639820 | copy number gain | 14-0227-002 | SNP array | Genotyping | 19 |
| nssv15645693 | copy number gain | 16-1021-002 | SNP array | Genotyping | 26 |
| nssv15660374 | copy number gain | 3-0727-000 | SNP array | Genotyping | 25 |
| nssv15665248 | copy number gain | LHSC-GA-15-613 | SNP array | Genotyping | 19 |
| nssv15670333 | copy number gain | 7-0293-003 | SNP array | Genotyping | 26 |
| nssv15696350 | copy number gain | 158188 | SNP array | Genotyping | 22 |
| nssv15700321 | copy number gain | 201549 | SNP array | Genotyping | 22 |
| nssv15702278 | copy number gain | 200221-2 | SNP array | Genotyping | 18 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15621629 | Remapped | Good | NT_187663.1:g.(?_8 13043)_(838389_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 813,043 | 838,389 |
| nssv15623093 | Remapped | Good | NT_187663.1:g.(?_8 13043)_(838389_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 813,043 | 838,389 |
| nssv15627829 | Remapped | Good | NT_187663.1:g.(?_8 13043)_(838389_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 813,043 | 838,389 |
| nssv15628340 | Remapped | Good | NT_187663.1:g.(?_8 13043)_(838389_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 813,043 | 838,389 |
| nssv15639820 | Remapped | Good | NT_187663.1:g.(?_8 13043)_(838389_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 813,043 | 838,389 |
| nssv15645693 | Remapped | Good | NT_187663.1:g.(?_8 13043)_(838389_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 813,043 | 838,389 |
| nssv15660374 | Remapped | Good | NT_187663.1:g.(?_8 13043)_(838389_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 813,043 | 838,389 |
| nssv15665248 | Remapped | Good | NT_187663.1:g.(?_8 13043)_(838389_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 813,043 | 838,389 |
| nssv15670333 | Remapped | Good | NT_187663.1:g.(?_8 13043)_(838389_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 813,043 | 838,389 |
| nssv15696350 | Remapped | Good | NT_187663.1:g.(?_8 13043)_(838389_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 813,043 | 838,389 |
| nssv15700321 | Remapped | Good | NT_187663.1:g.(?_8 13043)_(838389_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 813,043 | 838,389 |
| nssv15702278 | Remapped | Good | NT_187663.1:g.(?_8 13043)_(838389_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 813,043 | 838,389 |
| nssv15621629 | Remapped | Perfect | NC_000017.11:g.(?_ 46110944)_(4613628 3_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,110,944 | 46,136,283 |
| nssv15623093 | Remapped | Perfect | NC_000017.11:g.(?_ 46110944)_(4613628 3_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,110,944 | 46,136,283 |
| nssv15627829 | Remapped | Perfect | NC_000017.11:g.(?_ 46110944)_(4613628 3_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,110,944 | 46,136,283 |
| nssv15628340 | Remapped | Perfect | NC_000017.11:g.(?_ 46110944)_(4613628 3_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,110,944 | 46,136,283 |
| nssv15639820 | Remapped | Perfect | NC_000017.11:g.(?_ 46110944)_(4613628 3_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,110,944 | 46,136,283 |
| nssv15645693 | Remapped | Perfect | NC_000017.11:g.(?_ 46110944)_(4613628 3_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,110,944 | 46,136,283 |
| nssv15660374 | Remapped | Perfect | NC_000017.11:g.(?_ 46110944)_(4613628 3_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,110,944 | 46,136,283 |
| nssv15665248 | Remapped | Perfect | NC_000017.11:g.(?_ 46110944)_(4613628 3_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,110,944 | 46,136,283 |
| nssv15670333 | Remapped | Perfect | NC_000017.11:g.(?_ 46110944)_(4613628 3_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,110,944 | 46,136,283 |
| nssv15696350 | Remapped | Perfect | NC_000017.11:g.(?_ 46110944)_(4613628 3_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,110,944 | 46,136,283 |
| nssv15700321 | Remapped | Perfect | NC_000017.11:g.(?_ 46110944)_(4613628 3_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,110,944 | 46,136,283 |
| nssv15702278 | Remapped | Perfect | NC_000017.11:g.(?_ 46110944)_(4613628 3_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,110,944 | 46,136,283 |
| nssv15621629 | Submitted genomic | NC_000017.10:g.(?_ 44188310)_(4421364 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,188,310 | 44,213,649 | ||
| nssv15623093 | Submitted genomic | NC_000017.10:g.(?_ 44188310)_(4421364 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,188,310 | 44,213,649 | ||
| nssv15627829 | Submitted genomic | NC_000017.10:g.(?_ 44188310)_(4421364 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,188,310 | 44,213,649 | ||
| nssv15628340 | Submitted genomic | NC_000017.10:g.(?_ 44188310)_(4421364 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,188,310 | 44,213,649 | ||
| nssv15639820 | Submitted genomic | NC_000017.10:g.(?_ 44188310)_(4421364 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,188,310 | 44,213,649 | ||
| nssv15645693 | Submitted genomic | NC_000017.10:g.(?_ 44188310)_(4421364 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,188,310 | 44,213,649 | ||
| nssv15660374 | Submitted genomic | NC_000017.10:g.(?_ 44188310)_(4421364 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,188,310 | 44,213,649 | ||
| nssv15665248 | Submitted genomic | NC_000017.10:g.(?_ 44188310)_(4421364 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,188,310 | 44,213,649 | ||
| nssv15670333 | Submitted genomic | NC_000017.10:g.(?_ 44188310)_(4421364 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,188,310 | 44,213,649 | ||
| nssv15696350 | Submitted genomic | NC_000017.10:g.(?_ 44188310)_(4421364 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,188,310 | 44,213,649 | ||
| nssv15700321 | Submitted genomic | NC_000017.10:g.(?_ 44188310)_(4421364 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,188,310 | 44,213,649 | ||
| nssv15702278 | Submitted genomic | NC_000017.10:g.(?_ 44188310)_(4421364 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,188,310 | 44,213,649 |