nsv3167726
- 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:105,063
- 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: 407 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 407 SVs from 56 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3167726 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 35,842,570 | 35,947,632 |
| nsv3167726 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 34,430,492 | 34,535,554 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14231818 | copy number gain | Sequencing | Read depth |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14231818 | Remapped | Perfect | NC_000020.11:g.(?_ 35842570)_(3594763 2_?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 35,842,570 | 35,947,632 |
| nssv14231818 | Submitted genomic | NC_000020.10:g.(?_ 34430492)_(3453555 4_?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 34,430,492 | 34,535,554 |