nsv3412518
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:12
- Validation:Not tested
- Clinical Assertions: No
- Region Size:67,600
- Publication(s):Audano et al. 2019
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: 80 SVs from 27 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3412518 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NT_187374.1 | Chr9|NT_18 7374.1 | 12,301 (-100, +100) | 79,900 (-100, +100) | ||
nsv3412518 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000021.8 | Chr21 | 10,520,261 (-100, +100) | 10,587,829 (-100, +100) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14792882 | duplication | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
nssv14793265 | duplication | SAMN04251426 | Sequencing | de novo and local sequence assembly | 22,074 |
nssv14793716 | duplication | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
nssv14793965 | duplication | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
nssv14796920 | duplication | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
nssv14797538 | duplication | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
nssv14797923 | duplication | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
nssv14798526 | duplication | SAMN09690649 | Sequencing | de novo and local sequence assembly | 21,495 |
nssv14799385 | duplication | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
nssv14800699 | duplication | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
nssv14805682 | duplication | SAMN06885952 | Sequencing | de novo and local sequence assembly | 28,070 |
nssv14808475 | duplication | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14792882 | Submitted genomic | NT_187374.1:g.(122 01_12401)_(79800_8 0000)dup | GRCh38 (hg38) | NT_187374.1 | Chr9|NT_18 7374.1 | 12,301 (-100, +100) | 79,900 (-100, +100) | ||
nssv14793265 | Submitted genomic | NT_187374.1:g.(122 01_12401)_(79800_8 0000)dup | GRCh38 (hg38) | NT_187374.1 | Chr9|NT_18 7374.1 | 12,301 (-100, +100) | 79,900 (-100, +100) | ||
nssv14793716 | Submitted genomic | NT_187374.1:g.(122 01_12401)_(79800_8 0000)dup | GRCh38 (hg38) | NT_187374.1 | Chr9|NT_18 7374.1 | 12,301 (-100, +100) | 79,900 (-100, +100) | ||
nssv14793965 | Submitted genomic | NT_187374.1:g.(122 01_12401)_(79800_8 0000)dup | GRCh38 (hg38) | NT_187374.1 | Chr9|NT_18 7374.1 | 12,301 (-100, +100) | 79,900 (-100, +100) | ||
nssv14796920 | Submitted genomic | NT_187374.1:g.(122 01_12401)_(79800_8 0000)dup | GRCh38 (hg38) | NT_187374.1 | Chr9|NT_18 7374.1 | 12,301 (-100, +100) | 79,900 (-100, +100) | ||
nssv14797538 | Submitted genomic | NT_187374.1:g.(122 01_12401)_(79800_8 0000)dup | GRCh38 (hg38) | NT_187374.1 | Chr9|NT_18 7374.1 | 12,301 (-100, +100) | 79,900 (-100, +100) | ||
nssv14797923 | Submitted genomic | NT_187374.1:g.(122 01_12401)_(79800_8 0000)dup | GRCh38 (hg38) | NT_187374.1 | Chr9|NT_18 7374.1 | 12,301 (-100, +100) | 79,900 (-100, +100) | ||
nssv14798526 | Submitted genomic | NT_187374.1:g.(122 01_12401)_(79800_8 0000)dup | GRCh38 (hg38) | NT_187374.1 | Chr9|NT_18 7374.1 | 12,301 (-100, +100) | 79,900 (-100, +100) | ||
nssv14799385 | Submitted genomic | NT_187374.1:g.(122 01_12401)_(79800_8 0000)dup | GRCh38 (hg38) | NT_187374.1 | Chr9|NT_18 7374.1 | 12,301 (-100, +100) | 79,900 (-100, +100) | ||
nssv14800699 | Submitted genomic | NT_187374.1:g.(122 01_12401)_(79800_8 0000)dup | GRCh38 (hg38) | NT_187374.1 | Chr9|NT_18 7374.1 | 12,301 (-100, +100) | 79,900 (-100, +100) | ||
nssv14805682 | Submitted genomic | NT_187374.1:g.(122 01_12401)_(79800_8 0000)dup | GRCh38 (hg38) | NT_187374.1 | Chr9|NT_18 7374.1 | 12,301 (-100, +100) | 79,900 (-100, +100) | ||
nssv14808475 | Submitted genomic | NT_187374.1:g.(122 01_12401)_(79800_8 0000)dup | GRCh38 (hg38) | NT_187374.1 | Chr9|NT_18 7374.1 | 12,301 (-100, +100) | 79,900 (-100, +100) | ||
nssv14792882 | Remapped | Good | NC_000021.8:g.(105 20161_10520361)_(1 0587729_10587929)d upNC_000021.8:g.(1 0520161_10520361)_ (10587729_10587929 )dup | GRCh37.p13 | Second Pass | NC_000021.8 | Chr21 | 10,520,261 (-100, +100) | 10,587,829 (-100, +100) |
nssv14793265 | Remapped | Good | NC_000021.8:g.(105 20161_10520361)_(1 0587729_10587929)d upNC_000021.8:g.(1 0520161_10520361)_ (10587729_10587929 )dup | GRCh37.p13 | Second Pass | NC_000021.8 | Chr21 | 10,520,261 (-100, +100) | 10,587,829 (-100, +100) |
nssv14793716 | Remapped | Good | NC_000021.8:g.(105 20161_10520361)_(1 0587729_10587929)d upNC_000021.8:g.(1 0520161_10520361)_ (10587729_10587929 )dup | GRCh37.p13 | Second Pass | NC_000021.8 | Chr21 | 10,520,261 (-100, +100) | 10,587,829 (-100, +100) |
nssv14793965 | Remapped | Good | NC_000021.8:g.(105 20161_10520361)_(1 0587729_10587929)d upNC_000021.8:g.(1 0520161_10520361)_ (10587729_10587929 )dup | GRCh37.p13 | Second Pass | NC_000021.8 | Chr21 | 10,520,261 (-100, +100) | 10,587,829 (-100, +100) |
nssv14796920 | Remapped | Good | NC_000021.8:g.(105 20161_10520361)_(1 0587729_10587929)d upNC_000021.8:g.(1 0520161_10520361)_ (10587729_10587929 )dup | GRCh37.p13 | Second Pass | NC_000021.8 | Chr21 | 10,520,261 (-100, +100) | 10,587,829 (-100, +100) |
nssv14797538 | Remapped | Good | NC_000021.8:g.(105 20161_10520361)_(1 0587729_10587929)d upNC_000021.8:g.(1 0520161_10520361)_ (10587729_10587929 )dup | GRCh37.p13 | Second Pass | NC_000021.8 | Chr21 | 10,520,261 (-100, +100) | 10,587,829 (-100, +100) |
nssv14797923 | Remapped | Good | NC_000021.8:g.(105 20161_10520361)_(1 0587729_10587929)d upNC_000021.8:g.(1 0520161_10520361)_ (10587729_10587929 )dup | GRCh37.p13 | Second Pass | NC_000021.8 | Chr21 | 10,520,261 (-100, +100) | 10,587,829 (-100, +100) |
nssv14798526 | Remapped | Good | NC_000021.8:g.(105 20161_10520361)_(1 0587729_10587929)d upNC_000021.8:g.(1 0520161_10520361)_ (10587729_10587929 )dup | GRCh37.p13 | Second Pass | NC_000021.8 | Chr21 | 10,520,261 (-100, +100) | 10,587,829 (-100, +100) |
nssv14799385 | Remapped | Good | NC_000021.8:g.(105 20161_10520361)_(1 0587729_10587929)d upNC_000021.8:g.(1 0520161_10520361)_ (10587729_10587929 )dup | GRCh37.p13 | Second Pass | NC_000021.8 | Chr21 | 10,520,261 (-100, +100) | 10,587,829 (-100, +100) |
nssv14800699 | Remapped | Good | NC_000021.8:g.(105 20161_10520361)_(1 0587729_10587929)d upNC_000021.8:g.(1 0520161_10520361)_ (10587729_10587929 )dup | GRCh37.p13 | Second Pass | NC_000021.8 | Chr21 | 10,520,261 (-100, +100) | 10,587,829 (-100, +100) |
nssv14805682 | Remapped | Good | NC_000021.8:g.(105 20161_10520361)_(1 0587729_10587929)d upNC_000021.8:g.(1 0520161_10520361)_ (10587729_10587929 )dup | GRCh37.p13 | Second Pass | NC_000021.8 | Chr21 | 10,520,261 (-100, +100) | 10,587,829 (-100, +100) |
nssv14808475 | Remapped | Good | NC_000021.8:g.(105 20161_10520361)_(1 0587729_10587929)d upNC_000021.8:g.(1 0520161_10520361)_ (10587729_10587929 )dup | GRCh37.p13 | Second Pass | NC_000021.8 | Chr21 | 10,520,261 (-100, +100) | 10,587,829 (-100, +100) |