nsv4376860
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:97,090
- 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: 949 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 336 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 947 SVs from 77 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4376860 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 45,492,860 | 45,577,965 |
| nsv4376860 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 183,015 | 280,104 |
| nsv4376860 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 43,570,226 | 43,655,331 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15619348 | copy number loss | 1-0898-003 | SNP array | Genotyping | 19 |
| nssv15620328 | copy number loss | 1-0962-003 | SNP array | Genotyping | 27 |
| nssv15625853 | copy number loss | 1-0389-004 | SNP array | Genotyping | 15 |
| nssv15637157 | copy number loss | 12-4855-002 | SNP array | Genotyping | 26 |
| nssv15655640 | copy number loss | 2-1696-003 | SNP array | Genotyping | 23 |
| nssv15662390 | copy number loss | 5-0001-001 | SNP array | Genotyping | 25 |
| nssv15672730 | copy number loss | 7-0336-003 | SNP array | Genotyping | 16 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15619348 | Remapped | Pass | NT_187663.1:g.(?_1 83015)_(280104_?)d el | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 183,015 | 280,104 |
| nssv15620328 | Remapped | Pass | NT_187663.1:g.(?_1 83015)_(280104_?)d el | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 183,015 | 280,104 |
| nssv15625853 | Remapped | Pass | NT_187663.1:g.(?_1 83015)_(280104_?)d el | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 183,015 | 280,104 |
| nssv15637157 | Remapped | Pass | NT_187663.1:g.(?_1 83015)_(280104_?)d el | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 183,015 | 280,104 |
| nssv15655640 | Remapped | Pass | NT_187663.1:g.(?_1 83015)_(280104_?)d el | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 183,015 | 280,104 |
| nssv15662390 | Remapped | Pass | NT_187663.1:g.(?_1 83015)_(280104_?)d el | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 183,015 | 280,104 |
| nssv15672730 | Remapped | Pass | NT_187663.1:g.(?_1 83015)_(280104_?)d el | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 183,015 | 280,104 |
| nssv15619348 | Remapped | Perfect | NC_000017.11:g.(?_ 45492860)_(4557796 5_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 45,492,860 | 45,577,965 |
| nssv15620328 | Remapped | Perfect | NC_000017.11:g.(?_ 45492860)_(4557796 5_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 45,492,860 | 45,577,965 |
| nssv15625853 | Remapped | Perfect | NC_000017.11:g.(?_ 45492860)_(4557796 5_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 45,492,860 | 45,577,965 |
| nssv15637157 | Remapped | Perfect | NC_000017.11:g.(?_ 45492860)_(4557796 5_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 45,492,860 | 45,577,965 |
| nssv15655640 | Remapped | Perfect | NC_000017.11:g.(?_ 45492860)_(4557796 5_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 45,492,860 | 45,577,965 |
| nssv15662390 | Remapped | Perfect | NC_000017.11:g.(?_ 45492860)_(4557796 5_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 45,492,860 | 45,577,965 |
| nssv15672730 | Remapped | Perfect | NC_000017.11:g.(?_ 45492860)_(4557796 5_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 45,492,860 | 45,577,965 |
| nssv15619348 | Submitted genomic | NC_000017.10:g.(?_ 43570226)_(4365533 1_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 43,570,226 | 43,655,331 | ||
| nssv15620328 | Submitted genomic | NC_000017.10:g.(?_ 43570226)_(4365533 1_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 43,570,226 | 43,655,331 | ||
| nssv15625853 | Submitted genomic | NC_000017.10:g.(?_ 43570226)_(4365533 1_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 43,570,226 | 43,655,331 | ||
| nssv15637157 | Submitted genomic | NC_000017.10:g.(?_ 43570226)_(4365533 1_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 43,570,226 | 43,655,331 | ||
| nssv15655640 | Submitted genomic | NC_000017.10:g.(?_ 43570226)_(4365533 1_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 43,570,226 | 43,655,331 | ||
| nssv15662390 | Submitted genomic | NC_000017.10:g.(?_ 43570226)_(4365533 1_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 43,570,226 | 43,655,331 | ||
| nssv15672730 | Submitted genomic | NC_000017.10:g.(?_ 43570226)_(4365533 1_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 43,570,226 | 43,655,331 |