nsv3122834
- 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:174,202
- Description:qual score = 98
- 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: 1018 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 1018 SVs from 84 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3122834 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 2,571,501 | 2,745,702 |
| nsv3122834 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 2,613,185 | 2,787,386 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14131725 | copy number loss | Sequencing | Read depth |
| nssv14147284 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14131725 | Remapped | Perfect | NC_000003.12:g.(?_ 2571501)_(2745702_ ?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 2,571,501 | 2,745,702 |
| nssv14147284 | Remapped | Perfect | NC_000003.12:g.(?_ 2571501)_(2745702_ ?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 2,571,501 | 2,745,702 |
| nssv14131725 | Submitted genomic | NC_000003.11:g.(?_ 2613185)_(2787386_ ?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 2,613,185 | 2,787,386 | ||
| nssv14147284 | Submitted genomic | NC_000003.11:g.(?_ 2613185)_(2787386_ ?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 2,613,185 | 2,787,386 |