nsv469580
- Organism: Homo sapiens
- Study:nstd29 (Locke et al. 2006)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI34 (hg16)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:199,894
- Publication(s):Locke et al. 2006
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: 1460 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 849 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 992 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 1460 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 3 SVs from 2 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 |
---|---|---|---|---|---|---|---|---|---|
nsv469580 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 31,762,279 | 31,962,113 |
nsv469580 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 4,047,366 | 4,247,259 |
nsv469580 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 3,934,914 | 4,134,807 |
nsv469580 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 32,054,482 | 32,254,316 |
nsv469580 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000015.7 | Chr15 | 29,770,538 | 29,970,372 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv1674537 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv1674537 | Remapped | Good | NT_187660.1:g.(?_4 047366)_(4247259_? )dup | GRCh38.p12 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 4,047,366 | 4,247,259 |
nssv1674537 | Remapped | Good | NW_011332701.1:g.( ?_3934914)_(413480 7_?)dup | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 3,934,914 | 4,134,807 |
nssv1674537 | Remapped | Perfect | NC_000015.10:g.(?_ 31762279)_(3196211 3_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 31,762,279 | 31,962,113 |
nssv1674537 | Remapped | Perfect | NC_000015.9:g.(?_3 2054482)_(32254316 _?)dup | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 32,054,482 | 32,254,316 |
nssv1674537 | Submitted genomic | NC_000015.7:g.(?_2 9770538)_(29970372 _?)dup | NCBI34 (hg16) | NC_000015.7 | Chr15 | 29,770,538 | 29,970,372 |