nsv471592
- Organism: Homo sapiens
- Study:nstd32 (Sharp et al. 2005)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI34 (hg16)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:104,517
- Publication(s):Sharp et al. 2005
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: 457 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 96 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 88 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 47 SVs from 19 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 |
---|---|---|---|---|---|---|---|---|---|
nsv471592 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 144,925,645 | 145,030,161 |
nsv471592 | Remapped | Pass | GRCh37.p13 | PATCHES | Second Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 1,728,746 | 1,816,696 |
nsv471592 | Remapped | Good | GRCh37.p13 | PATCHES | Second Pass | NW_003871056.3 | Chr1|NW_00 3871056.3 | 1,321,715 | 1,461,779 |
nsv471592 | Remapped | Pass | GRCh37.p13 | PATCHES | Second Pass | NW_003871057.1 | Chr1|NW_00 3871057.1 | 259,493 | 363,800 |
nsv471592 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000001.7 | Chr1 | 141,751,323 | 141,891,622 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv550368 | copy number loss | GM10493 | BAC aCGH | Probe signal intensity | 65 |
nssv550369 | copy number loss | GM10494A | BAC aCGH | Probe signal intensity | 55 |
nssv550370 | copy number loss | JK1061 | BAC aCGH | Probe signal intensity | 51 |
nssv550371 | copy number loss | JK1688B | BAC aCGH | Probe signal intensity | 53 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv550368 | Remapped | Pass | NC_000001.11:g.(?_ 144925645)_(145030 161_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 144,925,645 | 145,030,161 |
nssv550369 | Remapped | Pass | NC_000001.11:g.(?_ 144925645)_(145030 161_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 144,925,645 | 145,030,161 |
nssv550370 | Remapped | Pass | NC_000001.11:g.(?_ 144925645)_(145030 161_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 144,925,645 | 145,030,161 |
nssv550371 | Remapped | Pass | NC_000001.11:g.(?_ 144925645)_(145030 161_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 144,925,645 | 145,030,161 |
nssv550368 | Remapped | Pass | NW_003871055.3:g.( ?_1728746)_(181669 6_?)delNW_00387105 6.3:g.(?_1321715)_ (1461779_?)delNW_0 03871057.1:g.(?_25 9493)_(363800_?)de l | GRCh37.p13 | Second Pass | NW_003871057.1 | Chr1|NW_00 3871057.1 | 259,493 | 363,800 |
nssv550369 | Remapped | Pass | NW_003871055.3:g.( ?_1728746)_(181669 6_?)delNW_00387105 6.3:g.(?_1321715)_ (1461779_?)delNW_0 03871057.1:g.(?_25 9493)_(363800_?)de l | GRCh37.p13 | Second Pass | NW_003871057.1 | Chr1|NW_00 3871057.1 | 259,493 | 363,800 |
nssv550370 | Remapped | Pass | NW_003871055.3:g.( ?_1728746)_(181669 6_?)delNW_00387105 6.3:g.(?_1321715)_ (1461779_?)delNW_0 03871057.1:g.(?_25 9493)_(363800_?)de l | GRCh37.p13 | Second Pass | NW_003871057.1 | Chr1|NW_00 3871057.1 | 259,493 | 363,800 |
nssv550371 | Remapped | Pass | NW_003871055.3:g.( ?_1728746)_(181669 6_?)delNW_00387105 6.3:g.(?_1321715)_ (1461779_?)delNW_0 03871057.1:g.(?_25 9493)_(363800_?)de l | GRCh37.p13 | Second Pass | NW_003871057.1 | Chr1|NW_00 3871057.1 | 259,493 | 363,800 |
nssv550368 | Remapped | Good | NW_003871055.3:g.( ?_1728746)_(181669 6_?)delNW_00387105 6.3:g.(?_1321715)_ (1461779_?)delNW_0 03871057.1:g.(?_25 9493)_(363800_?)de l | GRCh37.p13 | Second Pass | NW_003871056.3 | Chr1|NW_00 3871056.3 | 1,321,715 | 1,461,779 |
nssv550369 | Remapped | Good | NW_003871055.3:g.( ?_1728746)_(181669 6_?)delNW_00387105 6.3:g.(?_1321715)_ (1461779_?)delNW_0 03871057.1:g.(?_25 9493)_(363800_?)de l | GRCh37.p13 | Second Pass | NW_003871056.3 | Chr1|NW_00 3871056.3 | 1,321,715 | 1,461,779 |
nssv550370 | Remapped | Good | NW_003871055.3:g.( ?_1728746)_(181669 6_?)delNW_00387105 6.3:g.(?_1321715)_ (1461779_?)delNW_0 03871057.1:g.(?_25 9493)_(363800_?)de l | GRCh37.p13 | Second Pass | NW_003871056.3 | Chr1|NW_00 3871056.3 | 1,321,715 | 1,461,779 |
nssv550371 | Remapped | Good | NW_003871055.3:g.( ?_1728746)_(181669 6_?)delNW_00387105 6.3:g.(?_1321715)_ (1461779_?)delNW_0 03871057.1:g.(?_25 9493)_(363800_?)de l | GRCh37.p13 | Second Pass | NW_003871056.3 | Chr1|NW_00 3871056.3 | 1,321,715 | 1,461,779 |
nssv550368 | Remapped | Pass | NW_003871055.3:g.( ?_1728746)_(181669 6_?)delNW_00387105 6.3:g.(?_1321715)_ (1461779_?)delNW_0 03871057.1:g.(?_25 9493)_(363800_?)de l | GRCh37.p13 | Second Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 1,728,746 | 1,816,696 |
nssv550369 | Remapped | Pass | NW_003871055.3:g.( ?_1728746)_(181669 6_?)delNW_00387105 6.3:g.(?_1321715)_ (1461779_?)delNW_0 03871057.1:g.(?_25 9493)_(363800_?)de l | GRCh37.p13 | Second Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 1,728,746 | 1,816,696 |
nssv550370 | Remapped | Pass | NW_003871055.3:g.( ?_1728746)_(181669 6_?)delNW_00387105 6.3:g.(?_1321715)_ (1461779_?)delNW_0 03871057.1:g.(?_25 9493)_(363800_?)de l | GRCh37.p13 | Second Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 1,728,746 | 1,816,696 |
nssv550371 | Remapped | Pass | NW_003871055.3:g.( ?_1728746)_(181669 6_?)delNW_00387105 6.3:g.(?_1321715)_ (1461779_?)delNW_0 03871057.1:g.(?_25 9493)_(363800_?)de l | GRCh37.p13 | Second Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 1,728,746 | 1,816,696 |
nssv550368 | Submitted genomic | NC_000001.7:g.(?_1 41751323)_(1418916 22_?)del | NCBI34 (hg16) | NC_000001.7 | Chr1 | 141,751,323 | 141,891,622 | ||
nssv550369 | Submitted genomic | NC_000001.7:g.(?_1 41751323)_(1418916 22_?)del | NCBI34 (hg16) | NC_000001.7 | Chr1 | 141,751,323 | 141,891,622 | ||
nssv550370 | Submitted genomic | NC_000001.7:g.(?_1 41751323)_(1418916 22_?)del | NCBI34 (hg16) | NC_000001.7 | Chr1 | 141,751,323 | 141,891,622 | ||
nssv550371 | Submitted genomic | NC_000001.7:g.(?_1 41751323)_(1418916 22_?)del | NCBI34 (hg16) | NC_000001.7 | Chr1 | 141,751,323 | 141,891,622 |