nsv5596909
- Organism: Homo sapiens
- Study:nstd207 (Ebert et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:292
- 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: 110 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 110 SVs from 30 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5596909 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 17,934,048 | 17,934,339 | ||
nsv5596909 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 18,044,857 | 18,045,148 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17103888 | Submitted genomic | NC_000019.10:g.179 34048_17934339delG | GRCh38 (hg38) | NC_000019.10 | Chr19 | 17,934,048 | 17,934,339 | ||
nssv17103888 | Remapped | Perfect | NC_000019.9:g.1804 4857_18045148delG | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 18,044,857 | 18,045,148 |