nsv3125888
- 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:130,002
- Description:qual score = 97
- 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: 439 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 439 SVs from 62 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3125888 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 103,589,679 | 103,719,680 |
| nsv3125888 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 104,510,836 | 104,640,837 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14142989 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14142989 | Remapped | Perfect | NC_000004.12:g.(?_ 103589679)_(103719 680_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 103,589,679 | 103,719,680 |
| nssv14142989 | Submitted genomic | NC_000004.11:g.(?_ 104510836)_(104640 837_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 104,510,836 | 104,640,837 |