nsv3319881
- 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:62,100
- 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: 317 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 216 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 96 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3319881 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 145,015,501 (-100, +100) | 145,077,600 (-100, +100) | ||
| nsv3319881 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 143,931,543 (-100, +100) | 143,993,599 (-100, +100) |
| nsv3319881 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 1,830,914 (-100, +100) | 1,893,013 (-100, +100) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14472402 | duplication | SAMN02744161 | Sequencing | de novo and local sequence assembly | 20,941 |
| nssv14474496 | duplication | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
| nssv14474707 | duplication | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
| nssv14475406 | duplication | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
| nssv14475595 | duplication | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
| nssv14479952 | duplication | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
| nssv14482735 | duplication | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
| nssv14484534 | duplication | SAMN09690649 | Sequencing | de novo and local sequence assembly | 21,495 |
| nssv14485293 | duplication | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
| nssv14486264 | duplication | SAMN06885952 | Sequencing | de novo and local sequence assembly | 28,070 |
| nssv14486637 | duplication | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
| nssv14492008 | duplication | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14472402 | Submitted genomic | NC_000001.11:g.(14 5015401_145015601) _(145077500_145077 700)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 145,015,501 (-100, +100) | 145,077,600 (-100, +100) | ||
| nssv14474496 | Submitted genomic | NC_000001.11:g.(14 5015401_145015601) _(145077500_145077 700)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 145,015,501 (-100, +100) | 145,077,600 (-100, +100) | ||
| nssv14474707 | Submitted genomic | NC_000001.11:g.(14 5015401_145015601) _(145077500_145077 700)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 145,015,501 (-100, +100) | 145,077,600 (-100, +100) | ||
| nssv14475406 | Submitted genomic | NC_000001.11:g.(14 5015401_145015601) _(145077500_145077 700)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 145,015,501 (-100, +100) | 145,077,600 (-100, +100) | ||
| nssv14475595 | Submitted genomic | NC_000001.11:g.(14 5015401_145015601) _(145077500_145077 700)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 145,015,501 (-100, +100) | 145,077,600 (-100, +100) | ||
| nssv14479952 | Submitted genomic | NC_000001.11:g.(14 5015401_145015601) _(145077500_145077 700)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 145,015,501 (-100, +100) | 145,077,600 (-100, +100) | ||
| nssv14482735 | Submitted genomic | NC_000001.11:g.(14 5015401_145015601) _(145077500_145077 700)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 145,015,501 (-100, +100) | 145,077,600 (-100, +100) | ||
| nssv14484534 | Submitted genomic | NC_000001.11:g.(14 5015401_145015601) _(145077500_145077 700)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 145,015,501 (-100, +100) | 145,077,600 (-100, +100) | ||
| nssv14485293 | Submitted genomic | NC_000001.11:g.(14 5015401_145015601) _(145077500_145077 700)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 145,015,501 (-100, +100) | 145,077,600 (-100, +100) | ||
| nssv14486264 | Submitted genomic | NC_000001.11:g.(14 5015401_145015601) _(145077500_145077 700)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 145,015,501 (-100, +100) | 145,077,600 (-100, +100) | ||
| nssv14486637 | Submitted genomic | NC_000001.11:g.(14 5015401_145015601) _(145077500_145077 700)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 145,015,501 (-100, +100) | 145,077,600 (-100, +100) | ||
| nssv14492008 | Submitted genomic | NC_000001.11:g.(14 5015401_145015601) _(145077500_145077 700)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 145,015,501 (-100, +100) | 145,077,600 (-100, +100) | ||
| nssv14472402 | Remapped | Perfect | NW_003871055.3:g.( 1830814_1831014)_( 1892913_1893113)du pNW_003871055.3:g. (1830814_1831014)_ (1892913_1893113)d up | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 1,830,914 (-100, +100) | 1,893,013 (-100, +100) |
| nssv14474496 | Remapped | Perfect | NW_003871055.3:g.( 1830814_1831014)_( 1892913_1893113)du pNW_003871055.3:g. (1830814_1831014)_ (1892913_1893113)d up | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 1,830,914 (-100, +100) | 1,893,013 (-100, +100) |
| nssv14474707 | Remapped | Perfect | NW_003871055.3:g.( 1830814_1831014)_( 1892913_1893113)du pNW_003871055.3:g. (1830814_1831014)_ (1892913_1893113)d up | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 1,830,914 (-100, +100) | 1,893,013 (-100, +100) |
| nssv14475406 | Remapped | Perfect | NW_003871055.3:g.( 1830814_1831014)_( 1892913_1893113)du pNW_003871055.3:g. (1830814_1831014)_ (1892913_1893113)d up | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 1,830,914 (-100, +100) | 1,893,013 (-100, +100) |
| nssv14475595 | Remapped | Perfect | NW_003871055.3:g.( 1830814_1831014)_( 1892913_1893113)du pNW_003871055.3:g. (1830814_1831014)_ (1892913_1893113)d up | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 1,830,914 (-100, +100) | 1,893,013 (-100, +100) |
| nssv14479952 | Remapped | Perfect | NW_003871055.3:g.( 1830814_1831014)_( 1892913_1893113)du pNW_003871055.3:g. (1830814_1831014)_ (1892913_1893113)d up | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 1,830,914 (-100, +100) | 1,893,013 (-100, +100) |
| nssv14482735 | Remapped | Perfect | NW_003871055.3:g.( 1830814_1831014)_( 1892913_1893113)du pNW_003871055.3:g. (1830814_1831014)_ (1892913_1893113)d up | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 1,830,914 (-100, +100) | 1,893,013 (-100, +100) |
| nssv14484534 | Remapped | Perfect | NW_003871055.3:g.( 1830814_1831014)_( 1892913_1893113)du pNW_003871055.3:g. (1830814_1831014)_ (1892913_1893113)d up | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 1,830,914 (-100, +100) | 1,893,013 (-100, +100) |
| nssv14485293 | Remapped | Perfect | NW_003871055.3:g.( 1830814_1831014)_( 1892913_1893113)du pNW_003871055.3:g. (1830814_1831014)_ (1892913_1893113)d up | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 1,830,914 (-100, +100) | 1,893,013 (-100, +100) |
| nssv14486264 | Remapped | Perfect | NW_003871055.3:g.( 1830814_1831014)_( 1892913_1893113)du pNW_003871055.3:g. (1830814_1831014)_ (1892913_1893113)d up | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 1,830,914 (-100, +100) | 1,893,013 (-100, +100) |
| nssv14486637 | Remapped | Perfect | NW_003871055.3:g.( 1830814_1831014)_( 1892913_1893113)du pNW_003871055.3:g. (1830814_1831014)_ (1892913_1893113)d up | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 1,830,914 (-100, +100) | 1,893,013 (-100, +100) |
| nssv14492008 | Remapped | Perfect | NW_003871055.3:g.( 1830814_1831014)_( 1892913_1893113)du pNW_003871055.3:g. (1830814_1831014)_ (1892913_1893113)d up | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 1,830,914 (-100, +100) | 1,893,013 (-100, +100) |
| nssv14472402 | Remapped | Good | NC_000001.10:g.(14 3931443_143931643) _(143993499_143993 699)dupNC_000001.1 0:g.(143931443_143 931643)_(143993499 _143993699)dup | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 143,931,543 (-100, +100) | 143,993,599 (-100, +100) |
| nssv14474496 | Remapped | Good | NC_000001.10:g.(14 3931443_143931643) _(143993499_143993 699)dupNC_000001.1 0:g.(143931443_143 931643)_(143993499 _143993699)dup | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 143,931,543 (-100, +100) | 143,993,599 (-100, +100) |
| nssv14474707 | Remapped | Good | NC_000001.10:g.(14 3931443_143931643) _(143993499_143993 699)dupNC_000001.1 0:g.(143931443_143 931643)_(143993499 _143993699)dup | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 143,931,543 (-100, +100) | 143,993,599 (-100, +100) |
| nssv14475406 | Remapped | Good | NC_000001.10:g.(14 3931443_143931643) _(143993499_143993 699)dupNC_000001.1 0:g.(143931443_143 931643)_(143993499 _143993699)dup | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 143,931,543 (-100, +100) | 143,993,599 (-100, +100) |
| nssv14475595 | Remapped | Good | NC_000001.10:g.(14 3931443_143931643) _(143993499_143993 699)dupNC_000001.1 0:g.(143931443_143 931643)_(143993499 _143993699)dup | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 143,931,543 (-100, +100) | 143,993,599 (-100, +100) |
| nssv14479952 | Remapped | Good | NC_000001.10:g.(14 3931443_143931643) _(143993499_143993 699)dupNC_000001.1 0:g.(143931443_143 931643)_(143993499 _143993699)dup | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 143,931,543 (-100, +100) | 143,993,599 (-100, +100) |
| nssv14482735 | Remapped | Good | NC_000001.10:g.(14 3931443_143931643) _(143993499_143993 699)dupNC_000001.1 0:g.(143931443_143 931643)_(143993499 _143993699)dup | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 143,931,543 (-100, +100) | 143,993,599 (-100, +100) |
| nssv14484534 | Remapped | Good | NC_000001.10:g.(14 3931443_143931643) _(143993499_143993 699)dupNC_000001.1 0:g.(143931443_143 931643)_(143993499 _143993699)dup | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 143,931,543 (-100, +100) | 143,993,599 (-100, +100) |
| nssv14485293 | Remapped | Good | NC_000001.10:g.(14 3931443_143931643) _(143993499_143993 699)dupNC_000001.1 0:g.(143931443_143 931643)_(143993499 _143993699)dup | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 143,931,543 (-100, +100) | 143,993,599 (-100, +100) |
| nssv14486264 | Remapped | Good | NC_000001.10:g.(14 3931443_143931643) _(143993499_143993 699)dupNC_000001.1 0:g.(143931443_143 931643)_(143993499 _143993699)dup | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 143,931,543 (-100, +100) | 143,993,599 (-100, +100) |
| nssv14486637 | Remapped | Good | NC_000001.10:g.(14 3931443_143931643) _(143993499_143993 699)dupNC_000001.1 0:g.(143931443_143 931643)_(143993499 _143993699)dup | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 143,931,543 (-100, +100) | 143,993,599 (-100, +100) |
| nssv14492008 | Remapped | Good | NC_000001.10:g.(14 3931443_143931643) _(143993499_143993 699)dupNC_000001.1 0:g.(143931443_143 931643)_(143993499 _143993699)dup | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 143,931,543 (-100, +100) | 143,993,599 (-100, +100) |