nsv5941324
- 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:300
- 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: 279 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 279 SVs from 25 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5941324 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000018.10 | Chr18 | 12,616,890 | 12,617,189 | ||
nsv5941324 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 12,616,889 | 12,617,188 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17383278 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17383278 | Submitted genomic | NC_000018.10:g.126 16890_12617189del | GRCh38 (hg38) | NC_000018.10 | Chr18 | 12,616,890 | 12,617,189 | ||
nssv17383278 | Remapped | Perfect | NC_000018.9:g.1261 6889_12617188del | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 12,616,889 | 12,617,188 |