nsv3123789
- Organism: Homo sapiens
- Study:nstd151 (Exome Aggregation Consortium CNVs)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:252,631
- Description:qual score = 99
- Publication(s):Exome Aggregation Consortium CNVs
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: 882 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 887 SVs from 67 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3123789 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 237,566,565 | 237,819,195 |
| nsv3123789 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 237,729,865 | 237,982,495 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14122365 | copy number loss | Sequencing | Read depth |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14122365 | Remapped | Perfect | NC_000001.11:g.(?_ 237566565)_(237819 195_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 237,566,565 | 237,819,195 |
| nssv14122365 | Submitted genomic | NC_000001.10:g.(?_ 237729865)_(237982 495_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 237,729,865 | 237,982,495 |