nsv3127418
- 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:98,615
- 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: 449 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 449 SVs from 50 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3127418 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 19,473,223 | 19,571,837 |
| nsv3127418 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 19,473,332 | 19,571,946 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14133464 | copy number loss | Sequencing | Read depth |
| nssv14134582 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14133464 | Remapped | Perfect | NC_000005.10:g.(?_ 19473223)_(1957183 7_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 19,473,223 | 19,571,837 |
| nssv14134582 | Remapped | Perfect | NC_000005.10:g.(?_ 19473223)_(1957183 7_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 19,473,223 | 19,571,837 |
| nssv14133464 | Submitted genomic | NC_000005.9:g.(?_1 9473332)_(19571946 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 19,473,332 | 19,571,946 | ||
| nssv14134582 | Submitted genomic | NC_000005.9:g.(?_1 9473332)_(19571946 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 19,473,332 | 19,571,946 |