nsv5596264
- 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:72
- 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: 89 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 89 SVs from 28 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5596264 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 7,495,006 | 7,495,077 | ||
nsv5596264 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 7,559,892 | 7,559,963 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17106864 | Submitted genomic | NC_000019.10:g.749 5006_7495077delC | GRCh38 (hg38) | NC_000019.10 | Chr19 | 7,495,006 | 7,495,077 | ||
nssv17106864 | Remapped | Perfect | NC_000019.9:g.7559 892_7559963delC | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 7,559,892 | 7,559,963 |