nsv6622877
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:8
- Validation:Not tested
- Clinical Assertions: No
- Region Size:138,088
- Publication(s):Zarrei et al. 2023
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: 1118 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 468 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 529 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 1118 SVs from 96 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6622877 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 30,658,326 | 30,796,240 |
| nsv6622877 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 2,943,865 | 3,081,952 |
| nsv6622877 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 2,831,413 | 2,969,500 |
| nsv6622877 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 30,950,529 | 31,088,443 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18281855 | duplication | OSC2198 | SNP array | Probe signal intensity | 7 |
| nssv18285041 | duplication | OSC2487 | SNP array | Probe signal intensity | 5 |
| nssv18285100 | duplication | OSC2523 | SNP array | Probe signal intensity | 9 |
| nssv18291970 | duplication | OSC3954 | SNP array | Probe signal intensity | 5 |
| nssv18295327 | duplication | OSC4540 | SNP array | Probe signal intensity | 7 |
| nssv18299119 | deletion | OSC5300 | SNP array | Probe signal intensity | 5 |
| nssv18300086 | duplication | OSC5361 | SNP array | Probe signal intensity | nssv18300084, nssv18300085, nssv18300087 |
| nssv18319898 | deletion | OSC0938 | SNP array | Probe signal intensity | 8 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18281855 | Remapped | Good | NT_187660.1:g.(?_2 943865)_(3081952_? )dup | GRCh38.p12 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 2,943,865 | 3,081,952 |
| nssv18285041 | Remapped | Good | NT_187660.1:g.(?_2 943865)_(3081952_? )dup | GRCh38.p12 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 2,943,865 | 3,081,952 |
| nssv18285100 | Remapped | Good | NT_187660.1:g.(?_2 943865)_(3081952_? )dup | GRCh38.p12 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 2,943,865 | 3,081,952 |
| nssv18291970 | Remapped | Good | NT_187660.1:g.(?_2 943865)_(3081952_? )dup | GRCh38.p12 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 2,943,865 | 3,081,952 |
| nssv18295327 | Remapped | Good | NT_187660.1:g.(?_2 943865)_(3081952_? )dup | GRCh38.p12 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 2,943,865 | 3,081,952 |
| nssv18299119 | Remapped | Good | NT_187660.1:g.(?_2 943865)_(3081952_? )del | GRCh38.p12 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 2,943,865 | 3,081,952 |
| nssv18300086 | Remapped | Good | NT_187660.1:g.(?_2 943865)_(3081952_? )dup | GRCh38.p12 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 2,943,865 | 3,081,952 |
| nssv18319898 | Remapped | Good | NT_187660.1:g.(?_2 943865)_(3081952_? )del | GRCh38.p12 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 2,943,865 | 3,081,952 |
| nssv18281855 | Remapped | Good | NW_011332701.1:g.( ?_2831413)_(296950 0_?)dup | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 2,831,413 | 2,969,500 |
| nssv18285041 | Remapped | Good | NW_011332701.1:g.( ?_2831413)_(296950 0_?)dup | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 2,831,413 | 2,969,500 |
| nssv18285100 | Remapped | Good | NW_011332701.1:g.( ?_2831413)_(296950 0_?)dup | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 2,831,413 | 2,969,500 |
| nssv18291970 | Remapped | Good | NW_011332701.1:g.( ?_2831413)_(296950 0_?)dup | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 2,831,413 | 2,969,500 |
| nssv18295327 | Remapped | Good | NW_011332701.1:g.( ?_2831413)_(296950 0_?)dup | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 2,831,413 | 2,969,500 |
| nssv18299119 | Remapped | Good | NW_011332701.1:g.( ?_2831413)_(296950 0_?)del | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 2,831,413 | 2,969,500 |
| nssv18300086 | Remapped | Good | NW_011332701.1:g.( ?_2831413)_(296950 0_?)dup | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 2,831,413 | 2,969,500 |
| nssv18319898 | Remapped | Good | NW_011332701.1:g.( ?_2831413)_(296950 0_?)del | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 2,831,413 | 2,969,500 |
| nssv18281855 | Remapped | Perfect | NC_000015.10:g.(?_ 30658326)_(3079624 0_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 30,658,326 | 30,796,240 |
| nssv18285041 | Remapped | Perfect | NC_000015.10:g.(?_ 30658326)_(3079624 0_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 30,658,326 | 30,796,240 |
| nssv18285100 | Remapped | Perfect | NC_000015.10:g.(?_ 30658326)_(3079624 0_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 30,658,326 | 30,796,240 |
| nssv18291970 | Remapped | Perfect | NC_000015.10:g.(?_ 30658326)_(3079624 0_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 30,658,326 | 30,796,240 |
| nssv18295327 | Remapped | Perfect | NC_000015.10:g.(?_ 30658326)_(3079624 0_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 30,658,326 | 30,796,240 |
| nssv18299119 | Remapped | Perfect | NC_000015.10:g.(?_ 30658326)_(3079624 0_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 30,658,326 | 30,796,240 |
| nssv18300086 | Remapped | Perfect | NC_000015.10:g.(?_ 30658326)_(3079624 0_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 30,658,326 | 30,796,240 |
| nssv18319898 | Remapped | Perfect | NC_000015.10:g.(?_ 30658326)_(3079624 0_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 30,658,326 | 30,796,240 |
| nssv18281855 | Submitted genomic | NC_000015.9:g.(?_3 0950529)_(31088443 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 30,950,529 | 31,088,443 | ||
| nssv18285041 | Submitted genomic | NC_000015.9:g.(?_3 0950529)_(31088443 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 30,950,529 | 31,088,443 | ||
| nssv18285100 | Submitted genomic | NC_000015.9:g.(?_3 0950529)_(31088443 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 30,950,529 | 31,088,443 | ||
| nssv18291970 | Submitted genomic | NC_000015.9:g.(?_3 0950529)_(31088443 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 30,950,529 | 31,088,443 | ||
| nssv18295327 | Submitted genomic | NC_000015.9:g.(?_3 0950529)_(31088443 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 30,950,529 | 31,088,443 | ||
| nssv18299119 | Submitted genomic | NC_000015.9:g.(?_3 0950529)_(31088443 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 30,950,529 | 31,088,443 | ||
| nssv18300086 | Submitted genomic | NC_000015.9:g.(?_3 0950529)_(31088443 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 30,950,529 | 31,088,443 | ||
| nssv18319898 | Submitted genomic | NC_000015.9:g.(?_3 0950529)_(31088443 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 30,950,529 | 31,088,443 |