nsv883958
- Organism: Homo sapiens
- Study:nstd71 (Xu et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,800
- Publication(s):Xu 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: 730 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 60 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 730 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 60 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 298 SVs from 24 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv883958 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 29,942,954 | 29,942,973 | 29,945,360 | 29,945,738 |
| nsv883958 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 1,287,034 | 1,287,034 | 1,289,833 | 1,289,833 |
| nsv883958 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 29,910,731 | 29,910,750 | 29,913,137 | 29,913,515 |
| nsv883958 | Remapped | Good | GRCh37.p13 | ALT_REF_LOCI_5 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 1,292,619 | 1,292,619 | 1,295,418 | 1,295,418 |
| nsv883958 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 30,018,710 | 30,018,729 | 30,021,116 | 30,021,494 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1503008 | copy number loss | SP51477 | SNP array | SNP genotyping analysis | 19 |
| nssv1503148 | copy number loss | SP51493 | SNP array | SNP genotyping analysis | 19 |
| nssv1503183 | copy number loss | SP51499 | SNP array | SNP genotyping analysis | 9 |
| nssv1503255 | copy number loss | SP52019 | SNP array | SNP genotyping analysis | 22 |
| nssv1504965 | copy number loss | SP52925 | SNP array | SNP genotyping analysis | 23 |
| nssv1508124 | copy number loss | SP54604 | SNP array | SNP genotyping analysis | 21 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1503008 | Remapped | Good | NT_167247.2:g.(128 7034_1287034)_(128 9833_1289833)del | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 1,287,034 | 1,287,034 | 1,289,833 | 1,289,833 |
| nssv1503148 | Remapped | Good | NT_167247.2:g.(128 7034_1287034)_(128 9833_1289833)del | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 1,287,034 | 1,287,034 | 1,289,833 | 1,289,833 |
| nssv1503183 | Remapped | Good | NT_167247.2:g.(128 7034_1287034)_(128 9833_1289833)del | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 1,287,034 | 1,287,034 | 1,289,833 | 1,289,833 |
| nssv1503255 | Remapped | Good | NT_167247.2:g.(128 7034_1287034)_(128 9833_1289833)del | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 1,287,034 | 1,287,034 | 1,289,833 | 1,289,833 |
| nssv1504965 | Remapped | Good | NT_167247.2:g.(128 7034_1287034)_(128 9833_1289833)del | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 1,287,034 | 1,287,034 | 1,289,833 | 1,289,833 |
| nssv1508124 | Remapped | Good | NT_167247.2:g.(128 7034_1287034)_(128 9833_1289833)del | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 1,287,034 | 1,287,034 | 1,289,833 | 1,289,833 |
| nssv1503008 | Remapped | Perfect | NC_000006.12:g.(29 942954_29942973)_( 29945360_29945738) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,942,954 | 29,942,973 | 29,945,360 | 29,945,738 |
| nssv1503148 | Remapped | Perfect | NC_000006.12:g.(29 942954_29942973)_( 29945360_29945738) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,942,954 | 29,942,973 | 29,945,360 | 29,945,738 |
| nssv1503183 | Remapped | Perfect | NC_000006.12:g.(29 942954_29942973)_( 29945360_29945738) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,942,954 | 29,942,973 | 29,945,360 | 29,945,738 |
| nssv1503255 | Remapped | Perfect | NC_000006.12:g.(29 942954_29942973)_( 29945360_29945738) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,942,954 | 29,942,973 | 29,945,360 | 29,945,738 |
| nssv1504965 | Remapped | Perfect | NC_000006.12:g.(29 942954_29942973)_( 29945360_29945738) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,942,954 | 29,942,973 | 29,945,360 | 29,945,738 |
| nssv1508124 | Remapped | Perfect | NC_000006.12:g.(29 942954_29942973)_( 29945360_29945738) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,942,954 | 29,942,973 | 29,945,360 | 29,945,738 |
| nssv1503008 | Remapped | Good | NT_167247.1:g.(129 2619_1292619)_(129 5418_1295418)delNT _167247.1:g.(12926 19_1292619)_(12954 18_1295418)del | GRCh37.p13 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 1,292,619 | 1,292,619 | 1,295,418 | 1,295,418 |
| nssv1503148 | Remapped | Good | NT_167247.1:g.(129 2619_1292619)_(129 5418_1295418)delNT _167247.1:g.(12926 19_1292619)_(12954 18_1295418)del | GRCh37.p13 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 1,292,619 | 1,292,619 | 1,295,418 | 1,295,418 |
| nssv1503183 | Remapped | Good | NT_167247.1:g.(129 2619_1292619)_(129 5418_1295418)delNT _167247.1:g.(12926 19_1292619)_(12954 18_1295418)del | GRCh37.p13 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 1,292,619 | 1,292,619 | 1,295,418 | 1,295,418 |
| nssv1503255 | Remapped | Good | NT_167247.1:g.(129 2619_1292619)_(129 5418_1295418)delNT _167247.1:g.(12926 19_1292619)_(12954 18_1295418)del | GRCh37.p13 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 1,292,619 | 1,292,619 | 1,295,418 | 1,295,418 |
| nssv1504965 | Remapped | Good | NT_167247.1:g.(129 2619_1292619)_(129 5418_1295418)delNT _167247.1:g.(12926 19_1292619)_(12954 18_1295418)del | GRCh37.p13 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 1,292,619 | 1,292,619 | 1,295,418 | 1,295,418 |
| nssv1508124 | Remapped | Good | NT_167247.1:g.(129 2619_1292619)_(129 5418_1295418)delNT _167247.1:g.(12926 19_1292619)_(12954 18_1295418)del | GRCh37.p13 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 1,292,619 | 1,292,619 | 1,295,418 | 1,295,418 |
| nssv1503008 | Remapped | Perfect | NC_000006.11:g.(29 910731_29910750)_( 29913137_29913515) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 29,910,731 | 29,910,750 | 29,913,137 | 29,913,515 |
| nssv1503148 | Remapped | Perfect | NC_000006.11:g.(29 910731_29910750)_( 29913137_29913515) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 29,910,731 | 29,910,750 | 29,913,137 | 29,913,515 |
| nssv1503183 | Remapped | Perfect | NC_000006.11:g.(29 910731_29910750)_( 29913137_29913515) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 29,910,731 | 29,910,750 | 29,913,137 | 29,913,515 |
| nssv1503255 | Remapped | Perfect | NC_000006.11:g.(29 910731_29910750)_( 29913137_29913515) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 29,910,731 | 29,910,750 | 29,913,137 | 29,913,515 |
| nssv1504965 | Remapped | Perfect | NC_000006.11:g.(29 910731_29910750)_( 29913137_29913515) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 29,910,731 | 29,910,750 | 29,913,137 | 29,913,515 |
| nssv1508124 | Remapped | Perfect | NC_000006.11:g.(29 910731_29910750)_( 29913137_29913515) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 29,910,731 | 29,910,750 | 29,913,137 | 29,913,515 |
| nssv1503008 | Submitted genomic | NC_000006.10:g.(30 018710_30018729)_( 30021116_30021494) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 30,018,710 | 30,018,729 | 30,021,116 | 30,021,494 | ||
| nssv1503148 | Submitted genomic | NC_000006.10:g.(30 018710_30018729)_( 30021116_30021494) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 30,018,710 | 30,018,729 | 30,021,116 | 30,021,494 | ||
| nssv1503183 | Submitted genomic | NC_000006.10:g.(30 018710_30018729)_( 30021116_30021494) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 30,018,710 | 30,018,729 | 30,021,116 | 30,021,494 | ||
| nssv1503255 | Submitted genomic | NC_000006.10:g.(30 018710_30018729)_( 30021116_30021494) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 30,018,710 | 30,018,729 | 30,021,116 | 30,021,494 | ||
| nssv1504965 | Submitted genomic | NC_000006.10:g.(30 018710_30018729)_( 30021116_30021494) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 30,018,710 | 30,018,729 | 30,021,116 | 30,021,494 | ||
| nssv1508124 | Submitted genomic | NC_000006.10:g.(30 018710_30018729)_( 30021116_30021494) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 30,018,710 | 30,018,729 | 30,021,116 | 30,021,494 |