nsv5593652
- 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:1,167
- 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: 303 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 303 SVs from 32 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5593652 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000018.10 | Chr18 | 9,284,981 | 9,286,147 | ||
nsv5593652 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 9,284,979 | 9,286,145 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17103076 | deletion | SAMN00006579 | Sequencing | Sequence alignment | 23,265 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17103076 | Submitted genomic | NC_000018.10:g.928 4981_9286147delC | GRCh38 (hg38) | NC_000018.10 | Chr18 | 9,284,981 | 9,286,147 | ||
nssv17103076 | Remapped | Perfect | NC_000018.9:g.9284 979_9286145delC | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 9,284,979 | 9,286,145 |