nsv482914
- Organism: Homo sapiens
- Study:nstd41 (Iafrate et al. 2004)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:151,559
- 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: 516 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 516 SVs from 50 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 |
---|---|---|---|---|---|---|---|---|---|
nsv482914 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 33,450,161 | 33,601,719 |
nsv482914 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 33,742,362 | 33,893,920 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv2995964 | copy number loss | BAC aCGH | Probe signal intensity |
nssv2996092 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv2995964 | Remapped | Perfect | NC_000015.10:g.(?_ 33450161)_(3360171 9_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 33,450,161 | 33,601,719 |
nssv2996092 | Remapped | Perfect | NC_000015.10:g.(?_ 33450161)_(3360171 9_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 33,450,161 | 33,601,719 |
nssv2995964 | Submitted genomic | NC_000015.9:g.(?_3 3742362)_(33893920 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 33,742,362 | 33,893,920 | ||
nssv2996092 | Submitted genomic | NC_000015.9:g.(?_3 3742362)_(33893920 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 33,742,362 | 33,893,920 |