nsv3138629
- 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:239,791
- Description:qual score = 94
- 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: 655 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 259 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 658 SVs from 70 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3138629 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 56,136,768 | 56,376,558 |
| nsv3138629 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003871073.1 | Chr11|NW_0 03871073.1 | 1 | 187,300 |
| nsv3138629 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 55,904,244 | 56,144,034 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14182593 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14182593 | Remapped | Pass | NW_003871073.1:g.( ?_1)_(187300_?)del | GRCh38.p12 | Second Pass | NW_003871073.1 | Chr11|NW_0 03871073.1 | 1 | 187,300 |
| nssv14182593 | Remapped | Perfect | NC_000011.10:g.(?_ 56136768)_(5637655 8_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 56,136,768 | 56,376,558 |
| nssv14182593 | Submitted genomic | NC_000011.9:g.(?_5 5904244)_(56144034 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 55,904,244 | 56,144,034 |