nsv4414121
- Organism: Homo sapiens
- Study:nstd174 (DGV Gold Standard)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:307,738
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1976 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 2149 SVs from 83 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4414121 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 50,384,659 | 50,450,575 | 50,660,948 | 50,692,396 |
nsv4414121 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 50,343,830 | 50,409,746 | 50,620,119 | 50,651,567 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15708696 | copy number gain | Multiple | Multiple |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15708696 | Remapped | Perfect | NC_000011.10:g.(50 384659_50450575)_( 50660948_50692396) dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 50,384,659 | 50,450,575 | 50,660,948 | 50,692,396 |
nssv15708696 | Submitted genomic | NC_000011.9:g.(503 43830_50409746)_(5 0620119_50651567)d up | GRCh37 (hg19) | NC_000011.9 | Chr11 | 50,343,830 | 50,409,746 | 50,620,119 | 50,651,567 |