nsv3122208
- Organism: Homo sapiens
- Study:nstd151 (Exome Aggregation Consortium CNVs)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:115,885
- Description:
See descriptions for individual calls in download files - 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: 402 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 402 SVs from 49 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3122208 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 88,790,583 | 88,906,467 |
| nsv3122208 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 89,711,734 | 89,827,618 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14136154 | copy number loss | Sequencing | Read depth |
| nssv14141602 | copy number gain | Sequencing | Read depth |
| nssv14142237 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14136154 | Remapped | Perfect | NC_000004.12:g.(?_ 88790583)_(8890646 7_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 88,790,583 | 88,906,467 |
| nssv14141602 | Remapped | Perfect | NC_000004.12:g.(?_ 88790583)_(8890646 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 88,790,583 | 88,906,467 |
| nssv14142237 | Remapped | Perfect | NC_000004.12:g.(?_ 88790583)_(8890646 7_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 88,790,583 | 88,906,467 |
| nssv14136154 | Submitted genomic | NC_000004.11:g.(?_ 89711734)_(8982761 8_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 89,711,734 | 89,827,618 | ||
| nssv14141602 | Submitted genomic | NC_000004.11:g.(?_ 89711734)_(8982761 8_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 89,711,734 | 89,827,618 | ||
| nssv14142237 | Submitted genomic | NC_000004.11:g.(?_ 89711734)_(8982761 8_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 89,711,734 | 89,827,618 |