nsv2787694
- 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:70,040
- 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: 2588 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 791 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 635 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 400 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 891 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 2588 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 996 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 790 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 955 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 398 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 1470 SVs from 29 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 |
---|---|---|---|---|---|---|---|---|---|
nsv2787694 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 32,642,523 | 32,711,498 |
nsv2787694 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,943,536 | 4,008,035 |
nsv2787694 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 4,044,405 | 4,111,616 |
nsv2787694 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 4,060,757 | 4,130,796 |
nsv2787694 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,886,359 | 3,953,400 |
nsv2787694 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 32,610,300 | 32,679,275 |
nsv2787694 | Remapped | Good | GRCh37.p13 | ALT_REF_LOCI_3 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,891,944 | 3,958,984 |
nsv2787694 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_5 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 3,949,121 | 4,013,620 |
nsv2787694 | Remapped | Good | GRCh37.p13 | ALT_REF_LOCI_7 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 4,043,703 | 4,110,914 |
nsv2787694 | Remapped | Good | GRCh37.p13 | ALT_REF_LOCI_4 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | 4,066,377 | 4,136,416 |
nsv2787694 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 32,718,278 | 32,787,253 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv13670086 | copy number loss | CGPQ-863 | SNP array | Genotyping | 13 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv13670086 | Remapped | Pass | NT_167247.2:g.(?_3 943536)_(4008035_? )del | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,943,536 | 4,008,035 |
nssv13670086 | Remapped | Good | NT_167249.2:g.(?_4 044405)_(4111616_? )del | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 4,044,405 | 4,111,616 |
nssv13670086 | Remapped | Good | NT_167246.2:g.(?_4 060757)_(4130796_? )del | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 4,060,757 | 4,130,796 |
nssv13670086 | Remapped | Good | NT_167245.2:g.(?_3 886359)_(3953400_? )del | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,886,359 | 3,953,400 |
nssv13670086 | Remapped | Perfect | NC_000006.12:g.(?_ 32642523)_(3271149 8_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 32,642,523 | 32,711,498 |
nssv13670086 | Remapped | Good | NT_167245.1:g.(?_3 891944)_(3958984_? )delNT_167245.1:g. (?_3891944)_(39589 84_?)del | GRCh37.p13 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,891,944 | 3,958,984 |
nssv13670086 | Remapped | Pass | NT_167247.1:g.(?_3 949121)_(4013620_? )delNT_167247.1:g. (?_3949121)_(40136 20_?)del | GRCh37.p13 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 3,949,121 | 4,013,620 |
nssv13670086 | Remapped | Good | NT_167249.1:g.(?_4 043703)_(4110914_? )del | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 4,043,703 | 4,110,914 |
nssv13670086 | Remapped | Good | NT_167246.1:g.(?_4 066377)_(4136416_? )delNT_167246.1:g. (?_4066377)_(41364 16_?)del | GRCh37.p13 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | 4,066,377 | 4,136,416 |
nssv13670086 | Remapped | Perfect | NC_000006.11:g.(?_ 32610300)_(3267927 5_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 32,610,300 | 32,679,275 |
nssv13670086 | Submitted genomic | NC_000006.10:g.(?_ 32718278)_(3278725 3_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 32,718,278 | 32,787,253 |