nsv5671161
- 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:66,617
- 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: 261 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 261 SVs from 39 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5671161 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 81,642,914 | 81,709,530 | ||
nsv5671161 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 82,108,599 | 82,175,215 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17066994 | inversion | Optical mapping, Sequencing | Optical mapping, Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17066994 | Submitted genomic | NC_000001.11:g.816 42914_81709530inv | GRCh38 (hg38) | NC_000001.11 | Chr1 | 81,642,914 | 81,709,530 | ||
nssv17066994 | Remapped | Perfect | NC_000001.10:g.821 08599_82175215inv | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 82,108,599 | 82,175,215 |