nsv3118967
- 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:383,130
- 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: 1129 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 1134 SVs from 76 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3118967 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 224,968,757 | 225,351,886 |
| nsv3118967 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 225,156,459 | 225,539,588 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14118508 | copy number loss | Sequencing | Read depth |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14118508 | Remapped | Perfect | NC_000001.11:g.(?_ 224968757)_(225351 886_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 224,968,757 | 225,351,886 |
| nssv14118508 | Submitted genomic | NC_000001.10:g.(?_ 225156459)_(225539 588_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,156,459 | 225,539,588 |