nsv3120399
- 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:129,233
- 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: 684 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 684 SVs from 69 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3120399 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 42,565,862 | 42,695,094 |
| nsv3120399 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 42,565,964 | 42,695,196 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14136894 | copy number loss | Sequencing | Read depth |
| nssv14145671 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14136894 | Remapped | Perfect | NC_000005.10:g.(?_ 42565862)_(4269509 4_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 42,565,862 | 42,695,094 |
| nssv14145671 | Remapped | Perfect | NC_000005.10:g.(?_ 42565862)_(4269509 4_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 42,565,862 | 42,695,094 |
| nssv14136894 | Submitted genomic | NC_000005.9:g.(?_4 2565964)_(42695196 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 42,565,964 | 42,695,196 | ||
| nssv14145671 | Submitted genomic | NC_000005.9:g.(?_4 2565964)_(42695196 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 42,565,964 | 42,695,196 |