nsv2783925
- 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:24,800
- 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: 202 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 46 SVs from 11 studies. See in: genome view
Overlapping variant regions from other studies: 46 SVs from 11 studies. See in: genome view
Overlapping variant regions from other studies: 47 SVs from 11 studies. See in: genome view
Overlapping variant regions from other studies: 50 SVs from 11 studies. See in: genome view
Overlapping variant regions from other studies: 202 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 47 SVs from 11 studies. See in: genome view
Overlapping variant regions from other studies: 46 SVs from 11 studies. See in: genome view
Overlapping variant regions from other studies: 46 SVs from 11 studies. See in: genome view
Overlapping variant regions from other studies: 50 SVs from 11 studies. See in: genome view
Overlapping variant regions from other studies: 56 SVs from 12 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 |
---|---|---|---|---|---|---|---|---|---|
nsv2783925 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 31,761,582 | 31,786,380 |
nsv2783925 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,103,471 | 3,128,270 |
nsv2783925 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 3,060,874 | 3,085,672 |
nsv2783925 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,009,356 | 3,034,154 |
nsv2783925 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_167244.2 | Chr6|NT_16 7244.2 | 3,094,194 | 3,118,992 |
nsv2783925 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 31,729,359 | 31,754,157 |
nsv2783925 | Remapped | Perfect | GRCh37.p13 | ALT_REF_LOCI_3 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,014,941 | 3,039,739 |
nsv2783925 | Remapped | Good | GRCh37.p13 | ALT_REF_LOCI_5 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 3,109,056 | 3,133,855 |
nsv2783925 | Remapped | Perfect | GRCh37.p13 | ALT_REF_LOCI_7 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 3,060,172 | 3,084,970 |
nsv2783925 | Remapped | Perfect | GRCh37.p13 | ALT_REF_LOCI_1 | Second Pass | NT_167244.1 | Chr6|NT_16 7244.1 | 3,044,110 | 3,068,908 |
nsv2783925 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 31,837,338 | 31,862,136 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv13670342 | copy number loss | CGPQ-1788 | SNP array | Genotyping | 25 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv13670342 | Remapped | Perfect | NT_167249.2:g.(?_3 060874)_(3085672_? )del | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 3,060,874 | 3,085,672 |
nssv13670342 | Remapped | Good | NT_167247.2:g.(?_3 103471)_(3128270_? )del | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,103,471 | 3,128,270 |
nssv13670342 | Remapped | Perfect | NT_167245.2:g.(?_3 009356)_(3034154_? )del | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,009,356 | 3,034,154 |
nssv13670342 | Remapped | Perfect | NT_167244.2:g.(?_3 094194)_(3118992_? )del | GRCh38.p12 | Second Pass | NT_167244.2 | Chr6|NT_16 7244.2 | 3,094,194 | 3,118,992 |
nssv13670342 | Remapped | Perfect | NC_000006.12:g.(?_ 31761582)_(3178638 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,761,582 | 31,786,380 |
nssv13670342 | Remapped | Perfect | NT_167245.1:g.(?_3 014941)_(3039739_? )delNT_167245.1:g. (?_3014941)_(30397 39_?)del | GRCh37.p13 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,014,941 | 3,039,739 |
nssv13670342 | Remapped | Perfect | NT_167244.1:g.(?_3 044110)_(3068908_? )del | GRCh37.p13 | Second Pass | NT_167244.1 | Chr6|NT_16 7244.1 | 3,044,110 | 3,068,908 |
nssv13670342 | Remapped | Perfect | NT_167249.1:g.(?_3 060172)_(3084970_? )del | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 3,060,172 | 3,084,970 |
nssv13670342 | Remapped | Good | NT_167247.1:g.(?_3 109056)_(3133855_? )delNT_167247.1:g. (?_3109056)_(31338 55_?)del | GRCh37.p13 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 3,109,056 | 3,133,855 |
nssv13670342 | Remapped | Perfect | NC_000006.11:g.(?_ 31729359)_(3175415 7_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 31,729,359 | 31,754,157 |
nssv13670342 | Submitted genomic | NC_000006.10:g.(?_ 31837338)_(3186213 6_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 31,837,338 | 31,862,136 |