nsv483040
- 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:Not tested
- Clinical Assertions: No
- Region Size:150,949
- 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: 575 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 575 SVs from 63 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv483040 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 127,813,308 | 127,964,256 |
| nsv483040 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 127,149,000 | 127,299,948 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv2995922 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv2995922 | Remapped | Perfect | NC_000005.10:g.(?_ 127813308)_(127964 256_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 127,813,308 | 127,964,256 |
| nssv2995922 | Submitted genomic | NC_000005.9:g.(?_1 27149000)_(1272999 48_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 127,149,000 | 127,299,948 |