nsv483037
- Organism: Homo sapiens
- Study:nstd41 (Iafrate et al. 2004)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:159,590
- Publication(s):Iafrate et al. 2004
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: 548 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 550 SVs from 49 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv483037 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 176,061,851 | 176,221,440 |
| nsv483037 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 176,030,987 | 176,190,576 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv2996277 | copy number gain | BAC aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv2996277 | Remapped | Perfect | NC_000001.11:g.(?_ 176061851)_(176221 440_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 176,061,851 | 176,221,440 |
| nssv2996277 | Submitted genomic | NC_000001.10:g.(?_ 176030987)_(176190 576_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 176,030,987 | 176,190,576 |
Validation Information
| Variant Call ID | Experiment ID | Method | Analysis | Result |
|---|---|---|---|---|
| nssv2996277 | 2 | FISH | Probe signal intensity | Pass |