nsv511367
- Organism: Homo sapiens
- Study:nstd50 (Arlt et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:30,273
- Publication(s):Arlt et al. 2011
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: 193 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 191 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 64 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 67 SVs from 18 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv511367 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 75,452,848 | 75,452,848 | 75,483,120 | 75,483,120 |
nsv511367 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 75,082,121 | 75,083,893 | 75,104,782 | 75,112,397 |
nsv511367 | Remapped | Good | GRCh37.p13 | PATCHES | Second Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 2,982,084 | 2,982,084 | 3,012,356 | 3,012,356 |
nsv511367 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 74,920,057 | 74,921,829 | 74,942,718 | 74,950,333 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv625971 | copy number loss | 1 | SNP array | SNP genotyping analysis | 2,637 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv625971 | Remapped | Good | NC_000007.14:g.(75 452848_75452848)_( 75483120_75483120) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 75,452,848 | 75,452,848 | 75,483,120 | 75,483,120 |
nssv625971 | Remapped | Good | NW_003871064.1:g.( 2982084_2982084)_( 3012356_3012356)de l | GRCh37.p13 | Second Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 2,982,084 | 2,982,084 | 3,012,356 | 3,012,356 |
nssv625971 | Remapped | Perfect | NC_000007.13:g.(75 082121_75083893)_( 75104782_75112397) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 75,082,121 | 75,083,893 | 75,104,782 | 75,112,397 |
nssv625971 | Submitted genomic | NC_000007.12:g.(74 920057_74921829)_( 74942718_74950333) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 74,920,057 | 74,921,829 | 74,942,718 | 74,950,333 |