nsv3129336
- Organism: Homo sapiens
- Study:nstd151 (Exome Aggregation Consortium CNVs)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:134,042
- Description:qual score = 99
- 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: 776 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 789 SVs from 93 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3129336 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 152,664,103 | 152,798,144 |
| nsv3129336 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 152,636,579 | 152,770,620 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14119787 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14119787 | Remapped | Perfect | NC_000001.11:g.(?_ 152664103)_(152798 144_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 152,664,103 | 152,798,144 |
| nssv14119787 | Submitted genomic | NC_000001.10:g.(?_ 152636579)_(152770 620_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 152,636,579 | 152,770,620 |