nsv4730380
- 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:57,571
- 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: 161 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 182 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4730380 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 223,552,575 | 223,610,145 |
| nsv4730380 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 223,725,947 | 223,797,847 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16280107 | deletion | Sequencing | Split read mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16280107 | Remapped | Pass | NC_000001.11:g.223 552575_223610145de l | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 223,552,575 | 223,610,145 |
| nssv16280107 | Submitted genomic | NC_000001.10:g.223 725947_223797847de l | GRCh37 (hg19) | NC_000001.10 | Chr1 | 223,725,947 | 223,797,847 |