nsv3130998
- 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:285,638
- Description:qual score = 76
- 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: 1049 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 1049 SVs from 81 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3130998 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 92,304,654 | 92,590,291 |
| nsv3130998 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 93,225,805 | 93,511,442 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14133310 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14133310 | Remapped | Perfect | NC_000004.12:g.(?_ 92304654)_(9259029 1_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 92,304,654 | 92,590,291 |
| nssv14133310 | Submitted genomic | NC_000004.11:g.(?_ 93225805)_(9351144 2_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 93,225,805 | 93,511,442 |