nsv6630426
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:24
- Validation:Not tested
- Clinical Assertions: No
- Region Size:60,045
- 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: 289 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 289 SVs from 51 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6630426 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 62,476,703 | 62,536,747 |
| nsv6630426 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 61,772,530 | 61,832,574 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18282694 | duplication | OSC2140 | SNP array | Probe signal intensity | 7 |
| nssv18284564 | deletion | OSC2639 | SNP array | Probe signal intensity | nssv18284562, nssv18284563, nssv18284931 |
| nssv18287065 | duplication | OSC3099 | SNP array | Probe signal intensity | 11 |
| nssv18287105 | duplication | OSC3128 | SNP array | Probe signal intensity | 9 |
| nssv18287830 | duplication | OSC3144 | SNP array | Probe signal intensity | 10 |
| nssv18288021 | duplication | OSC3271 | SNP array | Probe signal intensity | 10 |
| nssv18288455 | duplication | OSC3185 | SNP array | Probe signal intensity | 11 |
| nssv18289253 | duplication | OSC3503 | SNP array | Probe signal intensity | 10 |
| nssv18291523 | duplication | OSC3802 | SNP array | Probe signal intensity | 11 |
| nssv18292350 | duplication | OSC0407 | SNP array | Probe signal intensity | 12 |
| nssv18292466 | duplication | OSC3829 | SNP array | Probe signal intensity | 12 |
| nssv18294238 | duplication | OSC0454 | SNP array | Probe signal intensity | 7 |
| nssv18301966 | duplication | OSC5609 | SNP array | Probe signal intensity | 14 |
| nssv18315278 | duplication | OSC0836 | SNP array | Probe signal intensity | 5 |
| nssv18315999 | duplication | OSC0852 | SNP array | Probe signal intensity | 14 |
| nssv18319912 | duplication | OSC0092 | SNP array | Probe signal intensity | 9 |
| nssv18320246 | duplication | OSC0927 | SNP array | Probe signal intensity | 13 |
| nssv18322397 | duplication | OSC1423 | SNP array | Probe signal intensity | 9 |
| nssv18322700 | duplication | OSC1368 | SNP array | Probe signal intensity | 7 |
| nssv18323129 | duplication | OSC1481 | SNP array | Probe signal intensity | 11 |
| nssv18323421 | duplication | OSC1482 | SNP array | Probe signal intensity | 15 |
| nssv18323893 | deletion | OSC1567 | SNP array | Probe signal intensity | nssv18324459 |
| nssv18325043 | duplication | OSC0205 | SNP array | Probe signal intensity | 7 |
| nssv18325869 | duplication | OSC0201 | SNP array | Probe signal intensity | nssv18325321, nssv18325612 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18282694 | Remapped | Perfect | NC_000005.10:g.(?_ 62476703)_(6253674 7_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 62,476,703 | 62,536,747 |
| nssv18284564 | Remapped | Perfect | NC_000005.10:g.(?_ 62476703)_(6253674 7_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 62,476,703 | 62,536,747 |
| nssv18287065 | Remapped | Perfect | NC_000005.10:g.(?_ 62476703)_(6253674 7_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 62,476,703 | 62,536,747 |
| nssv18287105 | Remapped | Perfect | NC_000005.10:g.(?_ 62476703)_(6253674 7_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 62,476,703 | 62,536,747 |
| nssv18287830 | Remapped | Perfect | NC_000005.10:g.(?_ 62476703)_(6253674 7_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 62,476,703 | 62,536,747 |
| nssv18288021 | Remapped | Perfect | NC_000005.10:g.(?_ 62476703)_(6253674 7_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 62,476,703 | 62,536,747 |
| nssv18288455 | Remapped | Perfect | NC_000005.10:g.(?_ 62476703)_(6253674 7_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 62,476,703 | 62,536,747 |
| nssv18289253 | Remapped | Perfect | NC_000005.10:g.(?_ 62476703)_(6253674 7_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 62,476,703 | 62,536,747 |
| nssv18291523 | Remapped | Perfect | NC_000005.10:g.(?_ 62476703)_(6253674 7_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 62,476,703 | 62,536,747 |
| nssv18292350 | Remapped | Perfect | NC_000005.10:g.(?_ 62476703)_(6253674 7_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 62,476,703 | 62,536,747 |
| nssv18292466 | Remapped | Perfect | NC_000005.10:g.(?_ 62476703)_(6253674 7_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 62,476,703 | 62,536,747 |
| nssv18294238 | Remapped | Perfect | NC_000005.10:g.(?_ 62476703)_(6253674 7_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 62,476,703 | 62,536,747 |
| nssv18301966 | Remapped | Perfect | NC_000005.10:g.(?_ 62476703)_(6253674 7_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 62,476,703 | 62,536,747 |
| nssv18315278 | Remapped | Perfect | NC_000005.10:g.(?_ 62476703)_(6253674 7_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 62,476,703 | 62,536,747 |
| nssv18315999 | Remapped | Perfect | NC_000005.10:g.(?_ 62476703)_(6253674 7_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 62,476,703 | 62,536,747 |
| nssv18319912 | Remapped | Perfect | NC_000005.10:g.(?_ 62476703)_(6253674 7_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 62,476,703 | 62,536,747 |
| nssv18320246 | Remapped | Perfect | NC_000005.10:g.(?_ 62476703)_(6253674 7_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 62,476,703 | 62,536,747 |
| nssv18322397 | Remapped | Perfect | NC_000005.10:g.(?_ 62476703)_(6253674 7_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 62,476,703 | 62,536,747 |
| nssv18322700 | Remapped | Perfect | NC_000005.10:g.(?_ 62476703)_(6253674 7_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 62,476,703 | 62,536,747 |
| nssv18323129 | Remapped | Perfect | NC_000005.10:g.(?_ 62476703)_(6253674 7_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 62,476,703 | 62,536,747 |
| nssv18323421 | Remapped | Perfect | NC_000005.10:g.(?_ 62476703)_(6253674 7_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 62,476,703 | 62,536,747 |
| nssv18323893 | Remapped | Perfect | NC_000005.10:g.(?_ 62476703)_(6253674 7_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 62,476,703 | 62,536,747 |
| nssv18325043 | Remapped | Perfect | NC_000005.10:g.(?_ 62476703)_(6253674 7_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 62,476,703 | 62,536,747 |
| nssv18325869 | Remapped | Perfect | NC_000005.10:g.(?_ 62476703)_(6253674 7_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 62,476,703 | 62,536,747 |
| nssv18282694 | Submitted genomic | NC_000005.9:g.(?_6 1772530)_(61832574 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 61,772,530 | 61,832,574 | ||
| nssv18284564 | Submitted genomic | NC_000005.9:g.(?_6 1772530)_(61832574 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 61,772,530 | 61,832,574 | ||
| nssv18287065 | Submitted genomic | NC_000005.9:g.(?_6 1772530)_(61832574 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 61,772,530 | 61,832,574 | ||
| nssv18287105 | Submitted genomic | NC_000005.9:g.(?_6 1772530)_(61832574 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 61,772,530 | 61,832,574 | ||
| nssv18287830 | Submitted genomic | NC_000005.9:g.(?_6 1772530)_(61832574 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 61,772,530 | 61,832,574 | ||
| nssv18288021 | Submitted genomic | NC_000005.9:g.(?_6 1772530)_(61832574 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 61,772,530 | 61,832,574 | ||
| nssv18288455 | Submitted genomic | NC_000005.9:g.(?_6 1772530)_(61832574 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 61,772,530 | 61,832,574 | ||
| nssv18289253 | Submitted genomic | NC_000005.9:g.(?_6 1772530)_(61832574 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 61,772,530 | 61,832,574 | ||
| nssv18291523 | Submitted genomic | NC_000005.9:g.(?_6 1772530)_(61832574 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 61,772,530 | 61,832,574 | ||
| nssv18292350 | Submitted genomic | NC_000005.9:g.(?_6 1772530)_(61832574 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 61,772,530 | 61,832,574 | ||
| nssv18292466 | Submitted genomic | NC_000005.9:g.(?_6 1772530)_(61832574 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 61,772,530 | 61,832,574 | ||
| nssv18294238 | Submitted genomic | NC_000005.9:g.(?_6 1772530)_(61832574 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 61,772,530 | 61,832,574 | ||
| nssv18301966 | Submitted genomic | NC_000005.9:g.(?_6 1772530)_(61832574 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 61,772,530 | 61,832,574 | ||
| nssv18315278 | Submitted genomic | NC_000005.9:g.(?_6 1772530)_(61832574 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 61,772,530 | 61,832,574 | ||
| nssv18315999 | Submitted genomic | NC_000005.9:g.(?_6 1772530)_(61832574 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 61,772,530 | 61,832,574 | ||
| nssv18319912 | Submitted genomic | NC_000005.9:g.(?_6 1772530)_(61832574 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 61,772,530 | 61,832,574 | ||
| nssv18320246 | Submitted genomic | NC_000005.9:g.(?_6 1772530)_(61832574 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 61,772,530 | 61,832,574 | ||
| nssv18322397 | Submitted genomic | NC_000005.9:g.(?_6 1772530)_(61832574 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 61,772,530 | 61,832,574 | ||
| nssv18322700 | Submitted genomic | NC_000005.9:g.(?_6 1772530)_(61832574 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 61,772,530 | 61,832,574 | ||
| nssv18323129 | Submitted genomic | NC_000005.9:g.(?_6 1772530)_(61832574 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 61,772,530 | 61,832,574 | ||
| nssv18323421 | Submitted genomic | NC_000005.9:g.(?_6 1772530)_(61832574 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 61,772,530 | 61,832,574 | ||
| nssv18323893 | Submitted genomic | NC_000005.9:g.(?_6 1772530)_(61832574 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 61,772,530 | 61,832,574 | ||
| nssv18325043 | Submitted genomic | NC_000005.9:g.(?_6 1772530)_(61832574 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 61,772,530 | 61,832,574 | ||
| nssv18325869 | Submitted genomic | NC_000005.9:g.(?_6 1772530)_(61832574 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 61,772,530 | 61,832,574 |