nsv6625497
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:20
- Validation:Not tested
- Clinical Assertions: No
- Region Size:50,413
- 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: 206 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 208 SVs from 37 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6625497 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 114,944,900 | 114,995,312 |
| nsv6625497 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 115,487,521 | 115,537,933 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18283131 | duplication | OSC2452 | SNP array | Probe signal intensity | 6 |
| nssv18283178 | duplication | OSC0233 | SNP array | Probe signal intensity | nssv18283168, nssv18283172, nssv18283512 |
| nssv18283204 | duplication | OSC2302 | SNP array | Probe signal intensity | 15 |
| nssv18284238 | duplication | OSC0268 | SNP array | Probe signal intensity | 12 |
| nssv18284994 | deletion | OSC2672 | SNP array | Probe signal intensity | 9 |
| nssv18286808 | duplication | OSC3077 | SNP array | Probe signal intensity | 13 |
| nssv18287448 | duplication | OSC3128 | SNP array | Probe signal intensity | 9 |
| nssv18290447 | duplication | OSC3694 | SNP array | Probe signal intensity | 13 |
| nssv18292034 | duplication | OSC3996 | SNP array | Probe signal intensity | 9 |
| nssv18292146 | duplication | OSC3829 | SNP array | Probe signal intensity | 12 |
| nssv18295128 | duplication | OSC0454 | SNP array | Probe signal intensity | 7 |
| nssv18297418 | deletion | OSC4735 | SNP array | Probe signal intensity | 10 |
| nssv18297894 | duplication | OSC5072 | SNP array | Probe signal intensity | 7 |
| nssv18301107 | duplication | OSC0556 | SNP array | Probe signal intensity | 11 |
| nssv18318589 | duplication | OSC0901 | SNP array | Probe signal intensity | 14 |
| nssv18319981 | duplication | OSC0997 | SNP array | Probe signal intensity | 5 |
| nssv18320796 | duplication | OSC0927 | SNP array | Probe signal intensity | 13 |
| nssv18324378 | deletion | OSC1712 | SNP array | Probe signal intensity | 5 |
| nssv18325639 | duplication | OSC1939 | SNP array | Probe signal intensity | 5 |
| nssv18326085 | duplication | OSC0205 | SNP array | Probe signal intensity | 7 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18283131 | Remapped | Perfect | NC_000001.11:g.(?_ 114944900)_(114995 312_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,944,900 | 114,995,312 |
| nssv18283178 | Remapped | Perfect | NC_000001.11:g.(?_ 114944900)_(114995 312_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,944,900 | 114,995,312 |
| nssv18283204 | Remapped | Perfect | NC_000001.11:g.(?_ 114944900)_(114995 312_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,944,900 | 114,995,312 |
| nssv18284238 | Remapped | Perfect | NC_000001.11:g.(?_ 114944900)_(114995 312_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,944,900 | 114,995,312 |
| nssv18284994 | Remapped | Perfect | NC_000001.11:g.(?_ 114944900)_(114995 312_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,944,900 | 114,995,312 |
| nssv18286808 | Remapped | Perfect | NC_000001.11:g.(?_ 114944900)_(114995 312_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,944,900 | 114,995,312 |
| nssv18287448 | Remapped | Perfect | NC_000001.11:g.(?_ 114944900)_(114995 312_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,944,900 | 114,995,312 |
| nssv18290447 | Remapped | Perfect | NC_000001.11:g.(?_ 114944900)_(114995 312_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,944,900 | 114,995,312 |
| nssv18292034 | Remapped | Perfect | NC_000001.11:g.(?_ 114944900)_(114995 312_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,944,900 | 114,995,312 |
| nssv18292146 | Remapped | Perfect | NC_000001.11:g.(?_ 114944900)_(114995 312_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,944,900 | 114,995,312 |
| nssv18295128 | Remapped | Perfect | NC_000001.11:g.(?_ 114944900)_(114995 312_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,944,900 | 114,995,312 |
| nssv18297418 | Remapped | Perfect | NC_000001.11:g.(?_ 114944900)_(114995 312_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,944,900 | 114,995,312 |
| nssv18297894 | Remapped | Perfect | NC_000001.11:g.(?_ 114944900)_(114995 312_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,944,900 | 114,995,312 |
| nssv18301107 | Remapped | Perfect | NC_000001.11:g.(?_ 114944900)_(114995 312_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,944,900 | 114,995,312 |
| nssv18318589 | Remapped | Perfect | NC_000001.11:g.(?_ 114944900)_(114995 312_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,944,900 | 114,995,312 |
| nssv18319981 | Remapped | Perfect | NC_000001.11:g.(?_ 114944900)_(114995 312_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,944,900 | 114,995,312 |
| nssv18320796 | Remapped | Perfect | NC_000001.11:g.(?_ 114944900)_(114995 312_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,944,900 | 114,995,312 |
| nssv18324378 | Remapped | Perfect | NC_000001.11:g.(?_ 114944900)_(114995 312_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,944,900 | 114,995,312 |
| nssv18325639 | Remapped | Perfect | NC_000001.11:g.(?_ 114944900)_(114995 312_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,944,900 | 114,995,312 |
| nssv18326085 | Remapped | Perfect | NC_000001.11:g.(?_ 114944900)_(114995 312_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 114,944,900 | 114,995,312 |
| nssv18283131 | Submitted genomic | NC_000001.10:g.(?_ 115487521)_(115537 933_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,487,521 | 115,537,933 | ||
| nssv18283178 | Submitted genomic | NC_000001.10:g.(?_ 115487521)_(115537 933_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,487,521 | 115,537,933 | ||
| nssv18283204 | Submitted genomic | NC_000001.10:g.(?_ 115487521)_(115537 933_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,487,521 | 115,537,933 | ||
| nssv18284238 | Submitted genomic | NC_000001.10:g.(?_ 115487521)_(115537 933_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,487,521 | 115,537,933 | ||
| nssv18284994 | Submitted genomic | NC_000001.10:g.(?_ 115487521)_(115537 933_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,487,521 | 115,537,933 | ||
| nssv18286808 | Submitted genomic | NC_000001.10:g.(?_ 115487521)_(115537 933_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,487,521 | 115,537,933 | ||
| nssv18287448 | Submitted genomic | NC_000001.10:g.(?_ 115487521)_(115537 933_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,487,521 | 115,537,933 | ||
| nssv18290447 | Submitted genomic | NC_000001.10:g.(?_ 115487521)_(115537 933_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,487,521 | 115,537,933 | ||
| nssv18292034 | Submitted genomic | NC_000001.10:g.(?_ 115487521)_(115537 933_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,487,521 | 115,537,933 | ||
| nssv18292146 | Submitted genomic | NC_000001.10:g.(?_ 115487521)_(115537 933_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,487,521 | 115,537,933 | ||
| nssv18295128 | Submitted genomic | NC_000001.10:g.(?_ 115487521)_(115537 933_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,487,521 | 115,537,933 | ||
| nssv18297418 | Submitted genomic | NC_000001.10:g.(?_ 115487521)_(115537 933_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,487,521 | 115,537,933 | ||
| nssv18297894 | Submitted genomic | NC_000001.10:g.(?_ 115487521)_(115537 933_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,487,521 | 115,537,933 | ||
| nssv18301107 | Submitted genomic | NC_000001.10:g.(?_ 115487521)_(115537 933_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,487,521 | 115,537,933 | ||
| nssv18318589 | Submitted genomic | NC_000001.10:g.(?_ 115487521)_(115537 933_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,487,521 | 115,537,933 | ||
| nssv18319981 | Submitted genomic | NC_000001.10:g.(?_ 115487521)_(115537 933_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,487,521 | 115,537,933 | ||
| nssv18320796 | Submitted genomic | NC_000001.10:g.(?_ 115487521)_(115537 933_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,487,521 | 115,537,933 | ||
| nssv18324378 | Submitted genomic | NC_000001.10:g.(?_ 115487521)_(115537 933_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,487,521 | 115,537,933 | ||
| nssv18325639 | Submitted genomic | NC_000001.10:g.(?_ 115487521)_(115537 933_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,487,521 | 115,537,933 | ||
| nssv18326085 | Submitted genomic | NC_000001.10:g.(?_ 115487521)_(115537 933_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 115,487,521 | 115,537,933 |