nsv3047954
- Organism: Homo sapiens
- Study:nstd140 (Fan et al. 2017)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:8,277
- Publication(s):Fan et al. 2017
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: 244 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 242 SVs from 48 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3047954 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 21,309,595 | 21,317,871 | ||
nsv3047954 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 21,212,907 | 21,221,183 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14017632 | Submitted genomic | NC_000017.11:g.213 09595_21317871del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 21,309,595 | 21,317,871 | ||
nssv14017632 | Remapped | Perfect | NC_000017.10:g.212 12907_21221183del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 21,212,907 | 21,221,183 |