nsv3141418
- 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:182,255
- Description:qual score = 95
- 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: 476 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 476 SVs from 68 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3141418 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 113,094,786 | 113,277,040 |
| nsv3141418 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 113,532,591 | 113,714,845 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14189783 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14189783 | Remapped | Perfect | NC_000012.12:g.(?_ 113094786)_(113277 040_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 113,094,786 | 113,277,040 |
| nssv14189783 | Submitted genomic | NC_000012.11:g.(?_ 113532591)_(113714 845_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 113,532,591 | 113,714,845 |