nsv4385608
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:8
- Validation:Not tested
- Clinical Assertions: No
- Region Size:586,544
- 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: 5536 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 1878 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 5392 SVs from 115 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4385608 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 46,120,730 | 46,707,273 |
| nsv4385608 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 822,827 | 1,226,699 |
| nsv4385608 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 44,198,096 | 44,784,639 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15613295 | copy number loss | 1-0121-002 | SNP array | Genotyping | 26 |
| nssv15623405 | copy number loss | 1-0236-002 | SNP array | Genotyping | 23 |
| nssv15629948 | copy number loss | 1-0595-004 | SNP array | Genotyping | 25 |
| nssv15631112 | copy number loss | 1-0602-003 | SNP array | Genotyping | 23 |
| nssv15646981 | copy number loss | 2-1213-001 | SNP array | Genotyping | 25 |
| nssv15652581 | copy number loss | 2-1562-001 | SNP array | Genotyping | 21 |
| nssv15684379 | copy number loss | OCD114-B_1684 | SNP array | Genotyping | 21 |
| nssv15691118 | copy number loss | OCD26-896511 | SNP array | Genotyping | 28 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15613295 | Remapped | Pass | NT_187663.1:g.(?_8 22827)_(1226699_?) del | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 822,827 | 1,226,699 |
| nssv15623405 | Remapped | Pass | NT_187663.1:g.(?_8 22827)_(1226699_?) del | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 822,827 | 1,226,699 |
| nssv15629948 | Remapped | Pass | NT_187663.1:g.(?_8 22827)_(1226699_?) del | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 822,827 | 1,226,699 |
| nssv15631112 | Remapped | Pass | NT_187663.1:g.(?_8 22827)_(1226699_?) del | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 822,827 | 1,226,699 |
| nssv15646981 | Remapped | Pass | NT_187663.1:g.(?_8 22827)_(1226699_?) del | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 822,827 | 1,226,699 |
| nssv15652581 | Remapped | Pass | NT_187663.1:g.(?_8 22827)_(1226699_?) del | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 822,827 | 1,226,699 |
| nssv15684379 | Remapped | Pass | NT_187663.1:g.(?_8 22827)_(1226699_?) del | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 822,827 | 1,226,699 |
| nssv15691118 | Remapped | Pass | NT_187663.1:g.(?_8 22827)_(1226699_?) del | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 822,827 | 1,226,699 |
| nssv15613295 | Remapped | Perfect | NC_000017.11:g.(?_ 46120730)_(4670727 3_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,120,730 | 46,707,273 |
| nssv15623405 | Remapped | Perfect | NC_000017.11:g.(?_ 46120730)_(4670727 3_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,120,730 | 46,707,273 |
| nssv15629948 | Remapped | Perfect | NC_000017.11:g.(?_ 46120730)_(4670727 3_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,120,730 | 46,707,273 |
| nssv15631112 | Remapped | Perfect | NC_000017.11:g.(?_ 46120730)_(4670727 3_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,120,730 | 46,707,273 |
| nssv15646981 | Remapped | Perfect | NC_000017.11:g.(?_ 46120730)_(4670727 3_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,120,730 | 46,707,273 |
| nssv15652581 | Remapped | Perfect | NC_000017.11:g.(?_ 46120730)_(4670727 3_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,120,730 | 46,707,273 |
| nssv15684379 | Remapped | Perfect | NC_000017.11:g.(?_ 46120730)_(4670727 3_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,120,730 | 46,707,273 |
| nssv15691118 | Remapped | Perfect | NC_000017.11:g.(?_ 46120730)_(4670727 3_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,120,730 | 46,707,273 |
| nssv15613295 | Submitted genomic | NC_000017.10:g.(?_ 44198096)_(4478463 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,198,096 | 44,784,639 | ||
| nssv15623405 | Submitted genomic | NC_000017.10:g.(?_ 44198096)_(4478463 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,198,096 | 44,784,639 | ||
| nssv15629948 | Submitted genomic | NC_000017.10:g.(?_ 44198096)_(4478463 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,198,096 | 44,784,639 | ||
| nssv15631112 | Submitted genomic | NC_000017.10:g.(?_ 44198096)_(4478463 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,198,096 | 44,784,639 | ||
| nssv15646981 | Submitted genomic | NC_000017.10:g.(?_ 44198096)_(4478463 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,198,096 | 44,784,639 | ||
| nssv15652581 | Submitted genomic | NC_000017.10:g.(?_ 44198096)_(4478463 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,198,096 | 44,784,639 | ||
| nssv15684379 | Submitted genomic | NC_000017.10:g.(?_ 44198096)_(4478463 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,198,096 | 44,784,639 | ||
| nssv15691118 | Submitted genomic | NC_000017.10:g.(?_ 44198096)_(4478463 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,198,096 | 44,784,639 |