nsv3329660
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:14,242
- Publication(s):Audano 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: 228 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 228 SVs from 54 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3329660 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 98,928,059 | 98,942,300 | ||
| nsv3329660 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 100,687,816 | 100,702,057 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14495543 | deletion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
| nssv14503142 | deletion | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14495543 | Submitted genomic | NC_000010.11:g.989 28059_98942300del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 98,928,059 | 98,942,300 | ||
| nssv14503142 | Submitted genomic | NC_000010.11:g.989 28059_98942300del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 98,928,059 | 98,942,300 | ||
| nssv14495543 | Remapped | Perfect | NC_000010.10:g.100 687816_100702057de lNC_000010.10:g.10 0687816_100702057d el | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 100,687,816 | 100,702,057 |
| nssv14503142 | Remapped | Perfect | NC_000010.10:g.100 687816_100702057de lNC_000010.10:g.10 0687816_100702057d el | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 100,687,816 | 100,702,057 |