nsv6623112
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:21
- Validation:Not tested
- Clinical Assertions: No
- Region Size:46,853
- 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: 696 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 696 SVs from 77 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6623112 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 43,600,609 | 43,647,461 |
| nsv6623112 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 43,892,807 | 43,939,659 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18281723 | duplication | OSC2111 | SNP array | Probe signal intensity | 7 |
| nssv18283982 | deletion | OSC2403 | SNP array | Probe signal intensity | 8 |
| nssv18284443 | deletion | OSC2554 | SNP array | Probe signal intensity | |
| nssv18289660 | deletion | OSC3387 | SNP array | Probe signal intensity | 7 |
| nssv18291608 | deletion | OSC3867 | SNP array | Probe signal intensity | 5 |
| nssv18291683 | deletion | OSC0403 | SNP array | Probe signal intensity | nssv18291916, nssv18291923, nssv18292272 |
| nssv18291809 | deletion | OSC3844 | SNP array | Probe signal intensity | 5 |
| nssv18293166 | deletion | OSC4144 | SNP array | Probe signal intensity | 6 |
| nssv18293179 | deletion | OSC0430 | SNP array | Probe signal intensity | 7 |
| nssv18296060 | deletion | OSC4677 | SNP array | Probe signal intensity | 8 |
| nssv18296479 | deletion | OSC0485 | SNP array | Probe signal intensity | 5 |
| nssv18301154 | deletion | OSC0561 | SNP array | Probe signal intensity | nssv18300270, nssv18300859, nssv18301142 |
| nssv18301708 | deletion | OSC5681 | SNP array | Probe signal intensity | 6 |
| nssv18304043 | deletion | OSC0647 | SNP array | Probe signal intensity | nssv18304285, nssv18304631, nssv18304635 |
| nssv18307756 | deletion | OSC0719 | SNP array | Probe signal intensity | 6 |
| nssv18311029 | deletion | OSC0764 | SNP array | Probe signal intensity | 6 |
| nssv18311968 | deletion | OSC0785 | SNP array | Probe signal intensity | 9 |
| nssv18318138 | deletion | OSC0889 | SNP array | Probe signal intensity | 6 |
| nssv18319782 | deletion | OSC0919 | SNP array | Probe signal intensity | nssv18320172 |
| nssv18325019 | deletion | OSC0204 | SNP array | Probe signal intensity | 5 |
| nssv18325847 | deletion | OSC0198 | SNP array | Probe signal intensity | 5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18281723 | Remapped | Perfect | NC_000015.10:g.(?_ 43600609)_(4364746 1_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 43,600,609 | 43,647,461 |
| nssv18283982 | Remapped | Perfect | NC_000015.10:g.(?_ 43600609)_(4364746 1_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 43,600,609 | 43,647,461 |
| nssv18284443 | Remapped | Perfect | NC_000015.10:g.(?_ 43600609)_(4364746 1_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 43,600,609 | 43,647,461 |
| nssv18289660 | Remapped | Perfect | NC_000015.10:g.(?_ 43600609)_(4364746 1_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 43,600,609 | 43,647,461 |
| nssv18291608 | Remapped | Perfect | NC_000015.10:g.(?_ 43600609)_(4364746 1_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 43,600,609 | 43,647,461 |
| nssv18291683 | Remapped | Perfect | NC_000015.10:g.(?_ 43600609)_(4364746 1_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 43,600,609 | 43,647,461 |
| nssv18291809 | Remapped | Perfect | NC_000015.10:g.(?_ 43600609)_(4364746 1_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 43,600,609 | 43,647,461 |
| nssv18293166 | Remapped | Perfect | NC_000015.10:g.(?_ 43600609)_(4364746 1_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 43,600,609 | 43,647,461 |
| nssv18293179 | Remapped | Perfect | NC_000015.10:g.(?_ 43600609)_(4364746 1_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 43,600,609 | 43,647,461 |
| nssv18296060 | Remapped | Perfect | NC_000015.10:g.(?_ 43600609)_(4364746 1_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 43,600,609 | 43,647,461 |
| nssv18296479 | Remapped | Perfect | NC_000015.10:g.(?_ 43600609)_(4364746 1_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 43,600,609 | 43,647,461 |
| nssv18301154 | Remapped | Perfect | NC_000015.10:g.(?_ 43600609)_(4364746 1_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 43,600,609 | 43,647,461 |
| nssv18301708 | Remapped | Perfect | NC_000015.10:g.(?_ 43600609)_(4364746 1_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 43,600,609 | 43,647,461 |
| nssv18304043 | Remapped | Perfect | NC_000015.10:g.(?_ 43600609)_(4364746 1_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 43,600,609 | 43,647,461 |
| nssv18307756 | Remapped | Perfect | NC_000015.10:g.(?_ 43600609)_(4364746 1_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 43,600,609 | 43,647,461 |
| nssv18311029 | Remapped | Perfect | NC_000015.10:g.(?_ 43600609)_(4364746 1_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 43,600,609 | 43,647,461 |
| nssv18311968 | Remapped | Perfect | NC_000015.10:g.(?_ 43600609)_(4364746 1_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 43,600,609 | 43,647,461 |
| nssv18318138 | Remapped | Perfect | NC_000015.10:g.(?_ 43600609)_(4364746 1_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 43,600,609 | 43,647,461 |
| nssv18319782 | Remapped | Perfect | NC_000015.10:g.(?_ 43600609)_(4364746 1_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 43,600,609 | 43,647,461 |
| nssv18325019 | Remapped | Perfect | NC_000015.10:g.(?_ 43600609)_(4364746 1_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 43,600,609 | 43,647,461 |
| nssv18325847 | Remapped | Perfect | NC_000015.10:g.(?_ 43600609)_(4364746 1_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 43,600,609 | 43,647,461 |
| nssv18281723 | Submitted genomic | NC_000015.9:g.(?_4 3892807)_(43939659 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 43,892,807 | 43,939,659 | ||
| nssv18283982 | Submitted genomic | NC_000015.9:g.(?_4 3892807)_(43939659 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 43,892,807 | 43,939,659 | ||
| nssv18284443 | Submitted genomic | NC_000015.9:g.(?_4 3892807)_(43939659 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 43,892,807 | 43,939,659 | ||
| nssv18289660 | Submitted genomic | NC_000015.9:g.(?_4 3892807)_(43939659 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 43,892,807 | 43,939,659 | ||
| nssv18291608 | Submitted genomic | NC_000015.9:g.(?_4 3892807)_(43939659 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 43,892,807 | 43,939,659 | ||
| nssv18291683 | Submitted genomic | NC_000015.9:g.(?_4 3892807)_(43939659 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 43,892,807 | 43,939,659 | ||
| nssv18291809 | Submitted genomic | NC_000015.9:g.(?_4 3892807)_(43939659 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 43,892,807 | 43,939,659 | ||
| nssv18293166 | Submitted genomic | NC_000015.9:g.(?_4 3892807)_(43939659 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 43,892,807 | 43,939,659 | ||
| nssv18293179 | Submitted genomic | NC_000015.9:g.(?_4 3892807)_(43939659 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 43,892,807 | 43,939,659 | ||
| nssv18296060 | Submitted genomic | NC_000015.9:g.(?_4 3892807)_(43939659 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 43,892,807 | 43,939,659 | ||
| nssv18296479 | Submitted genomic | NC_000015.9:g.(?_4 3892807)_(43939659 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 43,892,807 | 43,939,659 | ||
| nssv18301154 | Submitted genomic | NC_000015.9:g.(?_4 3892807)_(43939659 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 43,892,807 | 43,939,659 | ||
| nssv18301708 | Submitted genomic | NC_000015.9:g.(?_4 3892807)_(43939659 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 43,892,807 | 43,939,659 | ||
| nssv18304043 | Submitted genomic | NC_000015.9:g.(?_4 3892807)_(43939659 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 43,892,807 | 43,939,659 | ||
| nssv18307756 | Submitted genomic | NC_000015.9:g.(?_4 3892807)_(43939659 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 43,892,807 | 43,939,659 | ||
| nssv18311029 | Submitted genomic | NC_000015.9:g.(?_4 3892807)_(43939659 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 43,892,807 | 43,939,659 | ||
| nssv18311968 | Submitted genomic | NC_000015.9:g.(?_4 3892807)_(43939659 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 43,892,807 | 43,939,659 | ||
| nssv18318138 | Submitted genomic | NC_000015.9:g.(?_4 3892807)_(43939659 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 43,892,807 | 43,939,659 | ||
| nssv18319782 | Submitted genomic | NC_000015.9:g.(?_4 3892807)_(43939659 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 43,892,807 | 43,939,659 | ||
| nssv18325019 | Submitted genomic | NC_000015.9:g.(?_4 3892807)_(43939659 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 43,892,807 | 43,939,659 | ||
| nssv18325847 | Submitted genomic | NC_000015.9:g.(?_4 3892807)_(43939659 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 43,892,807 | 43,939,659 |