nsv6626817
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:29
- Validation:Not tested
- Clinical Assertions: No
- Region Size:174,438
- 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: 912 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 914 SVs from 87 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6626817 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 13,297,610 | 13,472,047 |
| nsv6626817 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 14,669,931 | 14,844,368 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18282510 | deletion | OSC2217 | SNP array | Probe signal intensity | 6 |
| nssv18283491 | deletion | OSC2266 | SNP array | Probe signal intensity | 5 |
| nssv18285220 | duplication | OSC2612 | SNP array | Probe signal intensity | |
| nssv18285226 | duplication | OSC2618 | SNP array | Probe signal intensity | 5 |
| nssv18285540 | duplication | OSC2837 | SNP array | Probe signal intensity | 8 |
| nssv18286113 | deletion | OSC2824 | SNP array | Probe signal intensity | 9 |
| nssv18288733 | deletion | OSC3158 | SNP array | Probe signal intensity | 5 |
| nssv18288919 | duplication | OSC3292 | SNP array | Probe signal intensity | 5 |
| nssv18289170 | deletion | OSC3435 | SNP array | Probe signal intensity | 7 |
| nssv18289786 | duplication | OSC3470 | SNP array | Probe signal intensity | 7 |
| nssv18290416 | duplication | OSC3667 | SNP array | Probe signal intensity | 7 |
| nssv18290484 | deletion | OSC3725 | SNP array | Probe signal intensity | 5 |
| nssv18291036 | deletion | OSC3695 | SNP array | Probe signal intensity | 9 |
| nssv18291555 | deletion | OSC3823 | SNP array | Probe signal intensity | 12 |
| nssv18292810 | duplication | OSC4054 | SNP array | Probe signal intensity | 6 |
| nssv18293625 | deletion | OSC4223 | SNP array | Probe signal intensity | 10 |
| nssv18294093 | deletion | OSC4305 | SNP array | Probe signal intensity | nssv18294330, nssv18294992 |
| nssv18295941 | duplication | OSC4583 | SNP array | Probe signal intensity | 7 |
| nssv18298386 | deletion | OSC5013 | SNP array | Probe signal intensity | 7 |
| nssv18298525 | duplication | OSC5123 | SNP array | Probe signal intensity | nssv18298884, nssv18298885 |
| nssv18299858 | duplication | OSC5184 | SNP array | Probe signal intensity | 7 |
| nssv18300123 | deletion | OSC5367 | SNP array | Probe signal intensity | 5 |
| nssv18300383 | deletion | OSC5569 | SNP array | Probe signal intensity | nssv18300624, nssv18300623 |
| nssv18316897 | deletion | OSC0866 | SNP array | Probe signal intensity | 9 |
| nssv18320881 | duplication | OSC0097 | SNP array | Probe signal intensity | 5 |
| nssv18324618 | duplication | OSC1674 | SNP array | Probe signal intensity | 7 |
| nssv18325337 | deletion | OSC1933 | SNP array | Probe signal intensity | 11 |
| nssv18325439 | deletion | OSC1800 | SNP array | Probe signal intensity | 9 |
| nssv18325486 | deletion | OSC1832 | SNP array | Probe signal intensity | 10 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18282510 | Remapped | Perfect | NC_000021.9:g.(?_1 3297610)_(13472047 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,297,610 | 13,472,047 |
| nssv18283491 | Remapped | Perfect | NC_000021.9:g.(?_1 3297610)_(13472047 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,297,610 | 13,472,047 |
| nssv18285220 | Remapped | Perfect | NC_000021.9:g.(?_1 3297610)_(13472047 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,297,610 | 13,472,047 |
| nssv18285226 | Remapped | Perfect | NC_000021.9:g.(?_1 3297610)_(13472047 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,297,610 | 13,472,047 |
| nssv18285540 | Remapped | Perfect | NC_000021.9:g.(?_1 3297610)_(13472047 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,297,610 | 13,472,047 |
| nssv18286113 | Remapped | Perfect | NC_000021.9:g.(?_1 3297610)_(13472047 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,297,610 | 13,472,047 |
| nssv18288733 | Remapped | Perfect | NC_000021.9:g.(?_1 3297610)_(13472047 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,297,610 | 13,472,047 |
| nssv18288919 | Remapped | Perfect | NC_000021.9:g.(?_1 3297610)_(13472047 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,297,610 | 13,472,047 |
| nssv18289170 | Remapped | Perfect | NC_000021.9:g.(?_1 3297610)_(13472047 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,297,610 | 13,472,047 |
| nssv18289786 | Remapped | Perfect | NC_000021.9:g.(?_1 3297610)_(13472047 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,297,610 | 13,472,047 |
| nssv18290416 | Remapped | Perfect | NC_000021.9:g.(?_1 3297610)_(13472047 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,297,610 | 13,472,047 |
| nssv18290484 | Remapped | Perfect | NC_000021.9:g.(?_1 3297610)_(13472047 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,297,610 | 13,472,047 |
| nssv18291036 | Remapped | Perfect | NC_000021.9:g.(?_1 3297610)_(13472047 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,297,610 | 13,472,047 |
| nssv18291555 | Remapped | Perfect | NC_000021.9:g.(?_1 3297610)_(13472047 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,297,610 | 13,472,047 |
| nssv18292810 | Remapped | Perfect | NC_000021.9:g.(?_1 3297610)_(13472047 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,297,610 | 13,472,047 |
| nssv18293625 | Remapped | Perfect | NC_000021.9:g.(?_1 3297610)_(13472047 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,297,610 | 13,472,047 |
| nssv18294093 | Remapped | Perfect | NC_000021.9:g.(?_1 3297610)_(13472047 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,297,610 | 13,472,047 |
| nssv18295941 | Remapped | Perfect | NC_000021.9:g.(?_1 3297610)_(13472047 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,297,610 | 13,472,047 |
| nssv18298386 | Remapped | Perfect | NC_000021.9:g.(?_1 3297610)_(13472047 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,297,610 | 13,472,047 |
| nssv18298525 | Remapped | Perfect | NC_000021.9:g.(?_1 3297610)_(13472047 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,297,610 | 13,472,047 |
| nssv18299858 | Remapped | Perfect | NC_000021.9:g.(?_1 3297610)_(13472047 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,297,610 | 13,472,047 |
| nssv18300123 | Remapped | Perfect | NC_000021.9:g.(?_1 3297610)_(13472047 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,297,610 | 13,472,047 |
| nssv18300383 | Remapped | Perfect | NC_000021.9:g.(?_1 3297610)_(13472047 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,297,610 | 13,472,047 |
| nssv18316897 | Remapped | Perfect | NC_000021.9:g.(?_1 3297610)_(13472047 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,297,610 | 13,472,047 |
| nssv18320881 | Remapped | Perfect | NC_000021.9:g.(?_1 3297610)_(13472047 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,297,610 | 13,472,047 |
| nssv18324618 | Remapped | Perfect | NC_000021.9:g.(?_1 3297610)_(13472047 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,297,610 | 13,472,047 |
| nssv18325337 | Remapped | Perfect | NC_000021.9:g.(?_1 3297610)_(13472047 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,297,610 | 13,472,047 |
| nssv18325439 | Remapped | Perfect | NC_000021.9:g.(?_1 3297610)_(13472047 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,297,610 | 13,472,047 |
| nssv18325486 | Remapped | Perfect | NC_000021.9:g.(?_1 3297610)_(13472047 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,297,610 | 13,472,047 |
| nssv18282510 | Submitted genomic | NC_000021.8:g.(?_1 4669931)_(14844368 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 14,669,931 | 14,844,368 | ||
| nssv18283491 | Submitted genomic | NC_000021.8:g.(?_1 4669931)_(14844368 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 14,669,931 | 14,844,368 | ||
| nssv18285220 | Submitted genomic | NC_000021.8:g.(?_1 4669931)_(14844368 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 14,669,931 | 14,844,368 | ||
| nssv18285226 | Submitted genomic | NC_000021.8:g.(?_1 4669931)_(14844368 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 14,669,931 | 14,844,368 | ||
| nssv18285540 | Submitted genomic | NC_000021.8:g.(?_1 4669931)_(14844368 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 14,669,931 | 14,844,368 | ||
| nssv18286113 | Submitted genomic | NC_000021.8:g.(?_1 4669931)_(14844368 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 14,669,931 | 14,844,368 | ||
| nssv18288733 | Submitted genomic | NC_000021.8:g.(?_1 4669931)_(14844368 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 14,669,931 | 14,844,368 | ||
| nssv18288919 | Submitted genomic | NC_000021.8:g.(?_1 4669931)_(14844368 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 14,669,931 | 14,844,368 | ||
| nssv18289170 | Submitted genomic | NC_000021.8:g.(?_1 4669931)_(14844368 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 14,669,931 | 14,844,368 | ||
| nssv18289786 | Submitted genomic | NC_000021.8:g.(?_1 4669931)_(14844368 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 14,669,931 | 14,844,368 | ||
| nssv18290416 | Submitted genomic | NC_000021.8:g.(?_1 4669931)_(14844368 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 14,669,931 | 14,844,368 | ||
| nssv18290484 | Submitted genomic | NC_000021.8:g.(?_1 4669931)_(14844368 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 14,669,931 | 14,844,368 | ||
| nssv18291036 | Submitted genomic | NC_000021.8:g.(?_1 4669931)_(14844368 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 14,669,931 | 14,844,368 | ||
| nssv18291555 | Submitted genomic | NC_000021.8:g.(?_1 4669931)_(14844368 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 14,669,931 | 14,844,368 | ||
| nssv18292810 | Submitted genomic | NC_000021.8:g.(?_1 4669931)_(14844368 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 14,669,931 | 14,844,368 | ||
| nssv18293625 | Submitted genomic | NC_000021.8:g.(?_1 4669931)_(14844368 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 14,669,931 | 14,844,368 | ||
| nssv18294093 | Submitted genomic | NC_000021.8:g.(?_1 4669931)_(14844368 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 14,669,931 | 14,844,368 | ||
| nssv18295941 | Submitted genomic | NC_000021.8:g.(?_1 4669931)_(14844368 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 14,669,931 | 14,844,368 | ||
| nssv18298386 | Submitted genomic | NC_000021.8:g.(?_1 4669931)_(14844368 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 14,669,931 | 14,844,368 | ||
| nssv18298525 | Submitted genomic | NC_000021.8:g.(?_1 4669931)_(14844368 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 14,669,931 | 14,844,368 | ||
| nssv18299858 | Submitted genomic | NC_000021.8:g.(?_1 4669931)_(14844368 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 14,669,931 | 14,844,368 | ||
| nssv18300123 | Submitted genomic | NC_000021.8:g.(?_1 4669931)_(14844368 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 14,669,931 | 14,844,368 | ||
| nssv18300383 | Submitted genomic | NC_000021.8:g.(?_1 4669931)_(14844368 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 14,669,931 | 14,844,368 | ||
| nssv18316897 | Submitted genomic | NC_000021.8:g.(?_1 4669931)_(14844368 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 14,669,931 | 14,844,368 | ||
| nssv18320881 | Submitted genomic | NC_000021.8:g.(?_1 4669931)_(14844368 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 14,669,931 | 14,844,368 | ||
| nssv18324618 | Submitted genomic | NC_000021.8:g.(?_1 4669931)_(14844368 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 14,669,931 | 14,844,368 | ||
| nssv18325337 | Submitted genomic | NC_000021.8:g.(?_1 4669931)_(14844368 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 14,669,931 | 14,844,368 | ||
| nssv18325439 | Submitted genomic | NC_000021.8:g.(?_1 4669931)_(14844368 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 14,669,931 | 14,844,368 | ||
| nssv18325486 | Submitted genomic | NC_000021.8:g.(?_1 4669931)_(14844368 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 14,669,931 | 14,844,368 |