nsv3528501
- 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:905
- 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: 353 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 353 SVs from 48 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3528501 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 89,907,820 | 89,908,724 (-5, +6) | ||
nsv3528501 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 89,974,228 | 89,975,132 (-5, +6) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv14379355 | duplication | HG00512 | Sequencing | Sequence alignment | Heterozygous | 13,827 |
nssv14384110 | duplication | HG00514 | Sequencing | Sequence alignment | Heterozygous | 39,861 |
nssv14392572 | duplication | SAMN00006466 | Sequencing | Sequence alignment | Heterozygous | 14,137 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14379355 | Submitted genomic | NC_000016.10:g.899 07820_(89908719_89 908730)dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 89,907,820 | 89,908,724 (-5, +6) | ||
nssv14384110 | Submitted genomic | NC_000016.10:g.899 07820_(89908719_89 908730)dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 89,907,820 | 89,908,724 (-5, +6) | ||
nssv14392572 | Submitted genomic | NC_000016.10:g.899 07820_(89908719_89 908730)dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 89,907,820 | 89,908,724 (-5, +6) | ||
nssv14379355 | Remapped | Perfect | NC_000016.9:g.8997 4228_(89975127_899 75138)dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 89,974,228 | 89,975,132 (-5, +6) |
nssv14384110 | Remapped | Perfect | NC_000016.9:g.8997 4228_(89975127_899 75138)dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 89,974,228 | 89,975,132 (-5, +6) |
nssv14392572 | Remapped | Perfect | NC_000016.9:g.8997 4228_(89975127_899 75138)dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 89,974,228 | 89,975,132 (-5, +6) |