nsv2787325
- Organism: Homo sapiens
- Study:nstd132 (Walker et al. 2017)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:239,666
- Publication(s):Walker et al. 2017
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: 8507 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 1249 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 1137 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 1323 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 1044 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 8508 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 1362 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 1178 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 1414 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 1545 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 5369 SVs from 33 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 |
---|---|---|---|---|---|---|---|---|---|
nsv2787325 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 32,515,752 | 32,683,032 |
nsv2787325 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,858,983 | 3,974,893 |
nsv2787325 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 3,833,381 | 4,065,138 |
nsv2787325 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 3,824,251 | 4,063,916 |
nsv2787325 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,818,659 | 3,920,246 |
nsv2787325 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 32,483,529 | 32,650,809 |
nsv2787325 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_3 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,821,149 | 3,925,831 |
nsv2787325 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_5 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 3,864,568 | 3,980,478 |
nsv2787325 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_7 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 3,832,679 | 4,064,436 |
nsv2787325 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_4 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | 3,827,971 | 4,069,536 |
nsv2787325 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 32,591,507 | 32,758,787 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv13670004 | copy number loss | CGPQ-1693 | SNP array | Genotyping | 5 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv13670004 | Remapped | Pass | NT_167246.2:g.(?_3 824251)_(4063916_? )del | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 3,824,251 | 4,063,916 |
nssv13670004 | Remapped | Pass | NT_167249.2:g.(?_3 833381)_(4065138_? )del | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 3,833,381 | 4,065,138 |
nssv13670004 | Remapped | Pass | NT_167247.2:g.(?_3 858983)_(3974893_? )del | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,858,983 | 3,974,893 |
nssv13670004 | Remapped | Pass | NT_167245.2:g.(?_3 818659)_(3920246_? )del | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,818,659 | 3,920,246 |
nssv13670004 | Remapped | Perfect | NC_000006.12:g.(?_ 32515752)_(3268303 2_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 32,515,752 | 32,683,032 |
nssv13670004 | Remapped | Pass | NT_167245.1:g.(?_3 821149)_(3925831_? )delNT_167245.1:g. (?_3821149)_(39258 31_?)del | GRCh37.p13 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,821,149 | 3,925,831 |
nssv13670004 | Remapped | Pass | NT_167246.1:g.(?_3 827971)_(4069536_? )delNT_167246.1:g. (?_3827971)_(40695 36_?)del | GRCh37.p13 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | 3,827,971 | 4,069,536 |
nssv13670004 | Remapped | Pass | NT_167249.1:g.(?_3 832679)_(4064436_? )del | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 3,832,679 | 4,064,436 |
nssv13670004 | Remapped | Pass | NT_167247.1:g.(?_3 864568)_(3980478_? )delNT_167247.1:g. (?_3864568)_(39804 78_?)del | GRCh37.p13 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 3,864,568 | 3,980,478 |
nssv13670004 | Remapped | Perfect | NC_000006.11:g.(?_ 32483529)_(3265080 9_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 32,483,529 | 32,650,809 |
nssv13670004 | Submitted genomic | NC_000006.10:g.(?_ 32591507)_(3275878 7_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 32,591,507 | 32,758,787 |