nsv5671782
- Organism: Homo sapiens
- Study:nstd207 (Ebert et al. 2021)
- Variant Type:inversion
- Method Type:Optical mapping, Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:57,207,413
- Publication(s):Ebert et al. 2021
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: 17941 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 18121 SVs from 80 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5671782 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000024.10 | ChrY | 10,002 | 57,217,414 | ||
nsv5671782 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000024.9 | ChrY | 10,002 | 59,363,565 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17169011 | inversion | SAMN00006580 | Optical mapping, Sequencing | Optical mapping, Sequence alignment | 9,409 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17169011 | Submitted genomic | NC_000024.10:g.100 02_57217414inv | GRCh38 (hg38) | NC_000024.10 | ChrY | 10,002 | 57,217,414 | ||
nssv17169011 | Remapped | Good | NC_000024.9:g.1000 2_59363565inv | GRCh37.p13 | First Pass | NC_000024.9 | ChrY | 10,002 | 59,363,565 |