nsv4732138
- Organism: Homo sapiens
- Study:nstd199 (Quan et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:743
- Publication(s):Quan 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: 93 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 93 SVs from 21 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4732138 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 28,267,864 | 28,268,606 |
nsv4732138 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 26,594,890 | 26,595,632 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16291412 | deletion | Sequencing | Split read mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16291412 | Remapped | Perfect | NC_000017.11:g.282 67864_28268606del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 28,267,864 | 28,268,606 |
nssv16291412 | Submitted genomic | NC_000017.10:g.265 94890_26595632del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 26,594,890 | 26,595,632 |