nsv4379892
- 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:81,220
- 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: 927 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 323 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 925 SVs from 76 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4379892 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 45,508,730 | 45,577,965 |
| nsv4379892 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 198,885 | 280,104 |
| nsv4379892 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 43,586,096 | 43,655,331 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15615630 | copy number loss | 1-0759-003 | SNP array | Genotyping | 23 |
| nssv15617697 | copy number loss | 1-0837-003 | SNP array | Genotyping | 30 |
| nssv15624056 | copy number loss | 1-0290-003 | SNP array | Genotyping | 25 |
| nssv15633101 | copy number loss | 10-1118-001 | SNP array | Genotyping | 17 |
| nssv15643691 | copy number loss | 2-0122-001 | SNP array | Genotyping | 17 |
| nssv15646685 | copy number loss | 2-1272-005 | SNP array | Genotyping | 14 |
| nssv15655056 | copy number loss | 2-1647-003 | SNP array | Genotyping | 26 |
| nssv15668096 | copy number loss | 7-0196-004 | SNP array | Genotyping | 24 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15615630 | Remapped | Pass | NT_187663.1:g.(?_1 98885)_(280104_?)d el | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 198,885 | 280,104 |
| nssv15617697 | Remapped | Pass | NT_187663.1:g.(?_1 98885)_(280104_?)d el | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 198,885 | 280,104 |
| nssv15624056 | Remapped | Pass | NT_187663.1:g.(?_1 98885)_(280104_?)d el | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 198,885 | 280,104 |
| nssv15633101 | Remapped | Pass | NT_187663.1:g.(?_1 98885)_(280104_?)d el | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 198,885 | 280,104 |
| nssv15643691 | Remapped | Pass | NT_187663.1:g.(?_1 98885)_(280104_?)d el | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 198,885 | 280,104 |
| nssv15646685 | Remapped | Pass | NT_187663.1:g.(?_1 98885)_(280104_?)d el | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 198,885 | 280,104 |
| nssv15655056 | Remapped | Pass | NT_187663.1:g.(?_1 98885)_(280104_?)d el | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 198,885 | 280,104 |
| nssv15668096 | Remapped | Pass | NT_187663.1:g.(?_1 98885)_(280104_?)d el | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 198,885 | 280,104 |
| nssv15615630 | Remapped | Perfect | NC_000017.11:g.(?_ 45508730)_(4557796 5_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 45,508,730 | 45,577,965 |
| nssv15617697 | Remapped | Perfect | NC_000017.11:g.(?_ 45508730)_(4557796 5_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 45,508,730 | 45,577,965 |
| nssv15624056 | Remapped | Perfect | NC_000017.11:g.(?_ 45508730)_(4557796 5_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 45,508,730 | 45,577,965 |
| nssv15633101 | Remapped | Perfect | NC_000017.11:g.(?_ 45508730)_(4557796 5_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 45,508,730 | 45,577,965 |
| nssv15643691 | Remapped | Perfect | NC_000017.11:g.(?_ 45508730)_(4557796 5_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 45,508,730 | 45,577,965 |
| nssv15646685 | Remapped | Perfect | NC_000017.11:g.(?_ 45508730)_(4557796 5_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 45,508,730 | 45,577,965 |
| nssv15655056 | Remapped | Perfect | NC_000017.11:g.(?_ 45508730)_(4557796 5_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 45,508,730 | 45,577,965 |
| nssv15668096 | Remapped | Perfect | NC_000017.11:g.(?_ 45508730)_(4557796 5_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 45,508,730 | 45,577,965 |
| nssv15615630 | Submitted genomic | NC_000017.10:g.(?_ 43586096)_(4365533 1_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 43,586,096 | 43,655,331 | ||
| nssv15617697 | Submitted genomic | NC_000017.10:g.(?_ 43586096)_(4365533 1_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 43,586,096 | 43,655,331 | ||
| nssv15624056 | Submitted genomic | NC_000017.10:g.(?_ 43586096)_(4365533 1_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 43,586,096 | 43,655,331 | ||
| nssv15633101 | Submitted genomic | NC_000017.10:g.(?_ 43586096)_(4365533 1_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 43,586,096 | 43,655,331 | ||
| nssv15643691 | Submitted genomic | NC_000017.10:g.(?_ 43586096)_(4365533 1_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 43,586,096 | 43,655,331 | ||
| nssv15646685 | Submitted genomic | NC_000017.10:g.(?_ 43586096)_(4365533 1_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 43,586,096 | 43,655,331 | ||
| nssv15655056 | Submitted genomic | NC_000017.10:g.(?_ 43586096)_(4365533 1_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 43,586,096 | 43,655,331 | ||
| nssv15668096 | Submitted genomic | NC_000017.10:g.(?_ 43586096)_(4365533 1_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 43,586,096 | 43,655,331 |