nsv5924087
- Organism: Homo sapiens
- Study:nstd209 (Almarri et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:72
- Publication(s):Almarri et al. 2020
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: 184 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 183 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 17 SVs from 7 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5924087 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 133,223,553 | 133,223,624 | ||
nsv5924087 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000009.11 | Chr9 | 136,098,940 | 136,099,011 |
nsv5924087 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003315925.1 | Chr9|NW_00 3315925.1 | 49,499 | 49,570 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17449409 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17449409 | Submitted genomic | NC_000009.12:g.133 223553_133223624de l | GRCh38 (hg38) | NC_000009.12 | Chr9 | 133,223,553 | 133,223,624 | ||
nssv17449409 | Remapped | Perfect | NW_003315925.1:g.4 9499_49570del | GRCh37.p13 | First Pass | NW_003315925.1 | Chr9|NW_00 3315925.1 | 49,499 | 49,570 |
nssv17449409 | Remapped | Perfect | NC_000009.11:g.136 098940_136099011de l | GRCh37.p13 | Second Pass | NC_000009.11 | Chr9 | 136,098,940 | 136,099,011 |