nsv3223518
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:133,291
- 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: 369 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 369 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3223518 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 71,848,266 (-15, +15) | 71,981,556 (-15, +15) | ||
| nsv3223518 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 72,314,983 (-15, +15) | 72,448,273 (-15, +15) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14371187 | deletion | SAMN00006579 | Sequencing | Sequence alignment | Heterozygous | 13,953 |
| nssv14371188 | deletion | SAMN00006580 | Sequencing | Sequence alignment | Heterozygous | 14,212 |
| nssv14371189 | deletion | SAMN00006581 | Sequencing | Sequence alignment | Heterozygous | 41,185 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14371187 | Submitted genomic | NC_000014.9:g.(718 48251_71848281)_(7 1981541_71981571)d el | GRCh38 (hg38) | NC_000014.9 | Chr14 | 71,848,266 (-15, +15) | 71,981,556 (-15, +15) | ||
| nssv14371188 | Submitted genomic | NC_000014.9:g.(718 48251_71848281)_(7 1981541_71981571)d el | GRCh38 (hg38) | NC_000014.9 | Chr14 | 71,848,266 (-15, +15) | 71,981,556 (-15, +15) | ||
| nssv14371189 | Submitted genomic | NC_000014.9:g.(718 48251_71848281)_(7 1981541_71981571)d el | GRCh38 (hg38) | NC_000014.9 | Chr14 | 71,848,266 (-15, +15) | 71,981,556 (-15, +15) | ||
| nssv14371187 | Remapped | Perfect | NC_000014.8:g.(723 14968_72314998)_(7 2448258_72448288)d el | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 72,314,983 (-15, +15) | 72,448,273 (-15, +15) |
| nssv14371188 | Remapped | Perfect | NC_000014.8:g.(723 14968_72314998)_(7 2448258_72448288)d el | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 72,314,983 (-15, +15) | 72,448,273 (-15, +15) |
| nssv14371189 | Remapped | Perfect | NC_000014.8:g.(723 14968_72314998)_(7 2448258_72448288)d el | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 72,314,983 (-15, +15) | 72,448,273 (-15, +15) |