nsv3150764
- Organism: Homo sapiens
- Study:nstd151 (Exome Aggregation Consortium CNVs)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:86,281
- Description:qual score = 93
- 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: 488 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 488 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3150764 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 22,193,490 | 22,279,770 |
| nsv3150764 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 22,215,036 | 22,301,316 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14179352 | copy number loss | Sequencing | Read depth |
| nssv14179353 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14179352 | Remapped | Perfect | NC_000011.10:g.(?_ 22193490)_(2227977 0_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 22,193,490 | 22,279,770 |
| nssv14179353 | Remapped | Perfect | NC_000011.10:g.(?_ 22193490)_(2227977 0_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 22,193,490 | 22,279,770 |
| nssv14179352 | Submitted genomic | NC_000011.9:g.(?_2 2215036)_(22301316 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 22,215,036 | 22,301,316 | ||
| nssv14179353 | Submitted genomic | NC_000011.9:g.(?_2 2215036)_(22301316 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 22,215,036 | 22,301,316 |