nsv3120574
- 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:107,206
- 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: 470 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 470 SVs from 47 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3120574 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 26,881,133 | 26,988,338 |
| nsv3120574 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 26,881,242 | 26,988,445 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14132276 | copy number loss | Sequencing | Read depth |
| nssv14138606 | copy number gain | Sequencing | Read depth |
| nssv14141892 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14132276 | Remapped | Good | NC_000005.10:g.(?_ 26881133)_(2698833 8_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 26,881,133 | 26,988,338 |
| nssv14138606 | Remapped | Good | NC_000005.10:g.(?_ 26881133)_(2698833 8_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 26,881,133 | 26,988,338 |
| nssv14141892 | Remapped | Good | NC_000005.10:g.(?_ 26881133)_(2698833 8_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 26,881,133 | 26,988,338 |
| nssv14132276 | Submitted genomic | NC_000005.9:g.(?_2 6881242)_(26988445 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 26,881,242 | 26,988,445 | ||
| nssv14138606 | Submitted genomic | NC_000005.9:g.(?_2 6881242)_(26988445 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 26,881,242 | 26,988,445 | ||
| nssv14141892 | Submitted genomic | NC_000005.9:g.(?_2 6881242)_(26988445 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 26,881,242 | 26,988,445 |