nsv3249643
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:sequence alteration
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:9,800
- Publication(s):Chaisson 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: 202 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 202 SVs from 47 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3249643 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 121,837,988 (-11, +11) | 121,847,787 (-10, +12) | ||
| nsv3249643 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 122,159,134 (-11, +11) | 122,168,933 (-10, +12) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14330065 | sequence alteration | HG00512 | Sequencing | Sequence alignment | Heterozygous | 13,827 |
| nssv14330066 | sequence alteration | SAMN00006466 | Sequencing | Sequence alignment | Heterozygous | 14,137 |
| nssv14330067 | sequence alteration | HG00514 | Sequencing | Sequence alignment | Heterozygous | 39,861 |
| nssv14330068 | sequence alteration | SAMN00001694 | Sequencing | Sequence alignment | Heterozygous | 16,419 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| nssv14330065 | Submitted genomic | GRCh38 (hg38) | NC_000006.12 | Chr6 | 121,837,988 (-11, +11) | 121,847,787 (-10, +12) | ||
| nssv14330066 | Submitted genomic | GRCh38 (hg38) | NC_000006.12 | Chr6 | 121,837,988 (-11, +11) | 121,847,787 (-10, +12) | ||
| nssv14330067 | Submitted genomic | GRCh38 (hg38) | NC_000006.12 | Chr6 | 121,837,988 (-11, +11) | 121,847,787 (-10, +12) | ||
| nssv14330068 | Submitted genomic | GRCh38 (hg38) | NC_000006.12 | Chr6 | 121,837,988 (-11, +11) | 121,847,787 (-10, +12) | ||
| nssv14330065 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 122,159,134 (-11, +11) | 122,168,933 (-10, +12) |
| nssv14330066 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 122,159,134 (-11, +11) | 122,168,933 (-10, +12) |
| nssv14330067 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 122,159,134 (-11, +11) | 122,168,933 (-10, +12) |
| nssv14330068 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 122,159,134 (-11, +11) | 122,168,933 (-10, +12) |