nsv3165097
- 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:374,019
- 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: 1542 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 1542 SVs from 85 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3165097 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 43,926,932 | 44,300,950 |
| nsv3165097 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 44,322,812 | 44,696,830 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14236268 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14236268 | Remapped | Perfect | NC_000022.11:g.(?_ 43926932)_(4430095 0_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 43,926,932 | 44,300,950 |
| nssv14236268 | Submitted genomic | NC_000022.10:g.(?_ 44322812)_(4469683 0_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 44,322,812 | 44,696,830 |