nsv5945235
- 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: 144 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 144 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 |
---|---|---|---|---|---|---|---|---|---|
nsv5945235 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 121,939,547 | 121,939,618 | ||
nsv5945235 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 122,377,453 | 122,377,524 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17351886 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17351886 | Submitted genomic | NC_000012.12:g.121 939547_121939618de l | GRCh38 (hg38) | NC_000012.12 | Chr12 | 121,939,547 | 121,939,618 | ||
nssv17351886 | Remapped | Perfect | NC_000012.11:g.122 377453_122377524de l | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 122,377,453 | 122,377,524 |