nsv4398235
- 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:842,063
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2952 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 2952 SVs from 99 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4398235 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 194,465,125 | 194,636,900 | 195,270,129 | 195,307,187 |
nsv4398235 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 194,434,255 | 194,606,030 | 195,239,259 | 195,276,317 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15708052 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15708052 | Remapped | Perfect | NC_000001.11:g.(19 4465125_194636900) _(195270129_195307 187)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 194,465,125 | 194,636,900 | 195,270,129 | 195,307,187 |
nssv15708052 | Submitted genomic | NC_000001.10:g.(19 4434255_194606030) _(195239259_195276 317)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 194,434,255 | 194,606,030 | 195,239,259 | 195,276,317 |