nsv469716
- 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:150,557
- 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: 640 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 526 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 304 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 1 SVs from 1 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 |
---|---|---|---|---|---|---|---|---|---|
nsv469716 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 72,595,336 | 72,745,892 |
nsv469716 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000007.13 | Chr7 | 72,060,321 | 72,196,404 |
nsv469716 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 124,600 | 260,683 |
nsv469716 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000007.10 | Chr7 | 71,472,438 | 71,622,982 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv1673659 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv1673659 | Remapped | Good | NC_000007.14:g.(?_ 72595336)_(7274589 2_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 72,595,336 | 72,745,892 |
nssv1673659 | Remapped | Pass | NW_003871064.1:g.( ?_124600)_(260683_ ?)dup | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 124,600 | 260,683 |
nssv1673659 | Remapped | Pass | NC_000007.13:g.(?_ 72060321)_(7219640 4_?)dup | GRCh37.p13 | Second Pass | NC_000007.13 | Chr7 | 72,060,321 | 72,196,404 |
nssv1673659 | Submitted genomic | NC_000007.10:g.(?_ 71472438)_(7162298 2_?)dup | NCBI34 (hg16) | NC_000007.10 | Chr7 | 71,472,438 | 71,622,982 |