nsv428244
- Organism: Homo sapiens
- Study:nstd8 (Perry et al. 2008b)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:143,117
- Publication(s):Perry et al. 2008
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: 951 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 239 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 1128 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 302 SVs from 27 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 |
---|---|---|---|---|---|---|---|---|---|
nsv428244 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 882,364 | 1,025,480 |
nsv428244 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 1 | 99,873 |
nsv428244 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 882,364 | 1,061,595 |
nsv428244 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 872,364 | 1,051,595 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv452007 | copy number loss | HGDP00449 | BAC aCGH | Probe signal intensity | 126 |
nssv452009 | copy number loss | HGDP00462 | BAC aCGH | Probe signal intensity | 83 |
nssv452010 | copy number loss | HGDP00463 | BAC aCGH | Probe signal intensity | 90 |
nssv452011 | copy number loss | HGDP00986 | BAC aCGH | Probe signal intensity | 82 |
nssv452012 | copy number loss | NA18498 | BAC aCGH | Probe signal intensity | 97 |
nssv452013 | copy number loss | NA19147 | BAC aCGH | Probe signal intensity | 75 |
nssv452014 | copy number loss | NA19225 | BAC aCGH | Probe signal intensity | 71 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv452007 | Remapped | Pass | NT_187681.1:g.(?_1 )_(99873_?)del | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 1 | 99,873 |
nssv452009 | Remapped | Pass | NT_187681.1:g.(?_1 )_(99873_?)del | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 1 | 99,873 |
nssv452010 | Remapped | Pass | NT_187681.1:g.(?_1 )_(99873_?)del | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 1 | 99,873 |
nssv452011 | Remapped | Pass | NT_187681.1:g.(?_1 )_(99873_?)del | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 1 | 99,873 |
nssv452012 | Remapped | Pass | NT_187681.1:g.(?_1 )_(99873_?)del | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 1 | 99,873 |
nssv452013 | Remapped | Pass | NT_187681.1:g.(?_1 )_(99873_?)del | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 1 | 99,873 |
nssv452014 | Remapped | Pass | NT_187681.1:g.(?_1 )_(99873_?)del | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 1 | 99,873 |
nssv452007 | Remapped | Pass | NC_000011.10:g.(?_ 882364)_(1025480_? )del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 882,364 | 1,025,480 |
nssv452009 | Remapped | Pass | NC_000011.10:g.(?_ 882364)_(1025480_? )del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 882,364 | 1,025,480 |
nssv452010 | Remapped | Pass | NC_000011.10:g.(?_ 882364)_(1025480_? )del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 882,364 | 1,025,480 |
nssv452011 | Remapped | Pass | NC_000011.10:g.(?_ 882364)_(1025480_? )del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 882,364 | 1,025,480 |
nssv452012 | Remapped | Pass | NC_000011.10:g.(?_ 882364)_(1025480_? )del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 882,364 | 1,025,480 |
nssv452013 | Remapped | Pass | NC_000011.10:g.(?_ 882364)_(1025480_? )del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 882,364 | 1,025,480 |
nssv452014 | Remapped | Pass | NC_000011.10:g.(?_ 882364)_(1025480_? )del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 882,364 | 1,025,480 |
nssv452007 | Remapped | Perfect | NC_000011.9:g.(?_8 82364)_(1061595_?) del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 882,364 | 1,061,595 |
nssv452009 | Remapped | Perfect | NC_000011.9:g.(?_8 82364)_(1061595_?) del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 882,364 | 1,061,595 |
nssv452010 | Remapped | Perfect | NC_000011.9:g.(?_8 82364)_(1061595_?) del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 882,364 | 1,061,595 |
nssv452011 | Remapped | Perfect | NC_000011.9:g.(?_8 82364)_(1061595_?) del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 882,364 | 1,061,595 |
nssv452012 | Remapped | Perfect | NC_000011.9:g.(?_8 82364)_(1061595_?) del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 882,364 | 1,061,595 |
nssv452013 | Remapped | Perfect | NC_000011.9:g.(?_8 82364)_(1061595_?) del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 882,364 | 1,061,595 |
nssv452014 | Remapped | Perfect | NC_000011.9:g.(?_8 82364)_(1061595_?) del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 882,364 | 1,061,595 |
nssv452007 | Submitted genomic | NC_000011.8:g.(?_8 72364)_(1051595_?) del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 872,364 | 1,051,595 | ||
nssv452009 | Submitted genomic | NC_000011.8:g.(?_8 72364)_(1051595_?) del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 872,364 | 1,051,595 | ||
nssv452010 | Submitted genomic | NC_000011.8:g.(?_8 72364)_(1051595_?) del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 872,364 | 1,051,595 | ||
nssv452011 | Submitted genomic | NC_000011.8:g.(?_8 72364)_(1051595_?) del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 872,364 | 1,051,595 | ||
nssv452012 | Submitted genomic | NC_000011.8:g.(?_8 72364)_(1051595_?) del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 872,364 | 1,051,595 | ||
nssv452013 | Submitted genomic | NC_000011.8:g.(?_8 72364)_(1051595_?) del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 872,364 | 1,051,595 | ||
nssv452014 | Submitted genomic | NC_000011.8:g.(?_8 72364)_(1051595_?) del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 872,364 | 1,051,595 |