nsv5669463
- 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:24,119
- 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: 310 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 316 SVs from 41 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5669463 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 20,267,049 (-1803, +1803) | 20,291,167 (-1216, +1216) | ||
nsv5669463 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 20,267,047 (-1803, +1803) | 20,291,165 (-1216, +1216) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17161477 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv17161477 | Submitted genomic | NC_000009.12:g.(20 265246_20268852)_( 20289951_20292383) inv | GRCh38 (hg38) | NC_000009.12 | Chr9 | 20,267,049 (-1803, +1803) | 20,291,167 (-1216, +1216) | ||
nssv17161477 | Remapped | Perfect | NC_000009.11:g.(20 265244_20268850)_( 20289949_20292381) inv | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 20,267,047 (-1803, +1803) | 20,291,165 (-1216, +1216) |