nsv2782837
- 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:17,454
- 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: 183 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 41 SVs from 9 studies. See in: genome view
Overlapping variant regions from other studies: 41 SVs from 9 studies. See in: genome view
Overlapping variant regions from other studies: 42 SVs from 9 studies. See in: genome view
Overlapping variant regions from other studies: 45 SVs from 9 studies. See in: genome view
Overlapping variant regions from other studies: 183 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 42 SVs from 9 studies. See in: genome view
Overlapping variant regions from other studies: 41 SVs from 9 studies. See in: genome view
Overlapping variant regions from other studies: 41 SVs from 9 studies. See in: genome view
Overlapping variant regions from other studies: 45 SVs from 9 studies. See in: genome view
Overlapping variant regions from other studies: 51 SVs from 10 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv2782837 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 31,765,689 | 31,783,142 |
| nsv2782837 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,107,578 | 3,125,031 |
| nsv2782837 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 3,064,981 | 3,082,433 |
| nsv2782837 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,013,463 | 3,030,916 |
| nsv2782837 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_167244.2 | Chr6|NT_16 7244.2 | 3,098,301 | 3,115,753 |
| nsv2782837 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 31,733,466 | 31,750,919 |
| nsv2782837 | Remapped | Perfect | GRCh37.p13 | ALT_REF_LOCI_3 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,019,048 | 3,036,501 |
| nsv2782837 | Remapped | Perfect | GRCh37.p13 | ALT_REF_LOCI_5 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 3,113,163 | 3,130,616 |
| nsv2782837 | Remapped | Good | GRCh37.p13 | ALT_REF_LOCI_7 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 3,064,279 | 3,081,731 |
| nsv2782837 | Remapped | Good | GRCh37.p13 | ALT_REF_LOCI_1 | Second Pass | NT_167244.1 | Chr6|NT_16 7244.1 | 3,048,217 | 3,065,669 |
| nsv2782837 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 31,841,445 | 31,858,898 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv13671151 | copy number loss | CGPQ-264 | SNP array | Genotyping | 21 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv13671151 | Remapped | Good | NT_167249.2:g.(?_3 064981)_(3082433_? )del | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 3,064,981 | 3,082,433 |
| nssv13671151 | Remapped | Perfect | NT_167247.2:g.(?_3 107578)_(3125031_? )del | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 3,107,578 | 3,125,031 |
| nssv13671151 | Remapped | Perfect | NT_167245.2:g.(?_3 013463)_(3030916_? )del | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,013,463 | 3,030,916 |
| nssv13671151 | Remapped | Good | NT_167244.2:g.(?_3 098301)_(3115753_? )del | GRCh38.p12 | Second Pass | NT_167244.2 | Chr6|NT_16 7244.2 | 3,098,301 | 3,115,753 |
| nssv13671151 | Remapped | Perfect | NC_000006.12:g.(?_ 31765689)_(3178314 2_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,765,689 | 31,783,142 |
| nssv13671151 | Remapped | Perfect | NT_167245.1:g.(?_3 019048)_(3036501_? )delNT_167245.1:g. (?_3019048)_(30365 01_?)del | GRCh37.p13 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,019,048 | 3,036,501 |
| nssv13671151 | Remapped | Good | NT_167244.1:g.(?_3 048217)_(3065669_? )del | GRCh37.p13 | Second Pass | NT_167244.1 | Chr6|NT_16 7244.1 | 3,048,217 | 3,065,669 |
| nssv13671151 | Remapped | Good | NT_167249.1:g.(?_3 064279)_(3081731_? )del | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 3,064,279 | 3,081,731 |
| nssv13671151 | Remapped | Perfect | NT_167247.1:g.(?_3 113163)_(3130616_? )delNT_167247.1:g. (?_3113163)_(31306 16_?)del | GRCh37.p13 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 3,113,163 | 3,130,616 |
| nssv13671151 | Remapped | Perfect | NC_000006.11:g.(?_ 31733466)_(3175091 9_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 31,733,466 | 31,750,919 |
| nssv13671151 | Submitted genomic | NC_000006.10:g.(?_ 31841445)_(3185889 8_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 31,841,445 | 31,858,898 |