nsv4386199
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:21
- Validation:Not tested
- Clinical Assertions: No
- Region Size:267,614
- Publication(s):Zarrei et al. 2019
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: 2248 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 2268 SVs from 108 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4386199 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 21,956,977 | 22,224,590 |
| nsv4386199 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 22,311,349 | 22,578,983 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15612031 | copy number gain | 1-0642-003 | SNP array | Genotyping | 19 |
| nssv15616011 | copy number gain | 1-0139-004 | SNP array | Genotyping | 15 |
| nssv15616030 | copy number gain | 1-0139-005 | SNP array | Genotyping | 16 |
| nssv15616142 | copy number gain | 1-0784-003 | SNP array | Genotyping | 19 |
| nssv15617370 | copy number gain | 1-0842-003 | SNP array | Genotyping | 22 |
| nssv15618073 | copy number gain | 1-0882-003 | SNP array | Genotyping | 27 |
| nssv15627689 | copy number gain | 1-0533-003 | SNP array | Genotyping | 17 |
| nssv15630151 | copy number gain | 1-0553-004 | SNP array | Genotyping | 25 |
| nssv15636913 | copy number gain | 14-0017-003 | SNP array | Genotyping | 18 |
| nssv15637642 | copy number gain | 14-0130-004 | SNP array | Genotyping | 16 |
| nssv15645917 | copy number loss | 2-0295-002 | SNP array | Genotyping | 15 |
| nssv15647069 | copy number loss | 2-0295-004 | SNP array | Genotyping | 26 |
| nssv15647976 | copy number gain | 2-1315-003 | SNP array | Genotyping | 24 |
| nssv15653108 | copy number gain | 2-1623-001 | SNP array | Genotyping | 29 |
| nssv15664953 | copy number gain | 14AG1853 | SNP array | Genotyping | 19 |
| nssv15667725 | copy number gain | 6-0460-003 | SNP array | Genotyping | 18 |
| nssv15676391 | copy number gain | 215272 | SNP array | Genotyping | 25 |
| nssv15684247 | copy number gain | OCD112-S_1666 | SNP array | Genotyping | 13 |
| nssv15687251 | copy number gain | OCD4-S_896091 | SNP array | Genotyping | 23 |
| nssv15697737 | copy number gain | 176792 | SNP array | Genotyping | 13 |
| nssv15698613 | copy number gain | 158450 | SNP array | Genotyping | 20 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15612031 | Remapped | Good | NC_000022.11:g.(?_ 21956977)_(2222459 0_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,956,977 | 22,224,590 |
| nssv15616011 | Remapped | Good | NC_000022.11:g.(?_ 21956977)_(2222459 0_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,956,977 | 22,224,590 |
| nssv15616030 | Remapped | Good | NC_000022.11:g.(?_ 21956977)_(2222459 0_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,956,977 | 22,224,590 |
| nssv15616142 | Remapped | Good | NC_000022.11:g.(?_ 21956977)_(2222459 0_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,956,977 | 22,224,590 |
| nssv15617370 | Remapped | Good | NC_000022.11:g.(?_ 21956977)_(2222459 0_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,956,977 | 22,224,590 |
| nssv15618073 | Remapped | Good | NC_000022.11:g.(?_ 21956977)_(2222459 0_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,956,977 | 22,224,590 |
| nssv15627689 | Remapped | Good | NC_000022.11:g.(?_ 21956977)_(2222459 0_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,956,977 | 22,224,590 |
| nssv15630151 | Remapped | Good | NC_000022.11:g.(?_ 21956977)_(2222459 0_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,956,977 | 22,224,590 |
| nssv15636913 | Remapped | Good | NC_000022.11:g.(?_ 21956977)_(2222459 0_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,956,977 | 22,224,590 |
| nssv15637642 | Remapped | Good | NC_000022.11:g.(?_ 21956977)_(2222459 0_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,956,977 | 22,224,590 |
| nssv15645917 | Remapped | Good | NC_000022.11:g.(?_ 21956977)_(2222459 0_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,956,977 | 22,224,590 |
| nssv15647069 | Remapped | Good | NC_000022.11:g.(?_ 21956977)_(2222459 0_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,956,977 | 22,224,590 |
| nssv15647976 | Remapped | Good | NC_000022.11:g.(?_ 21956977)_(2222459 0_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,956,977 | 22,224,590 |
| nssv15653108 | Remapped | Good | NC_000022.11:g.(?_ 21956977)_(2222459 0_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,956,977 | 22,224,590 |
| nssv15664953 | Remapped | Good | NC_000022.11:g.(?_ 21956977)_(2222459 0_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,956,977 | 22,224,590 |
| nssv15667725 | Remapped | Good | NC_000022.11:g.(?_ 21956977)_(2222459 0_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,956,977 | 22,224,590 |
| nssv15676391 | Remapped | Good | NC_000022.11:g.(?_ 21956977)_(2222459 0_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,956,977 | 22,224,590 |
| nssv15684247 | Remapped | Good | NC_000022.11:g.(?_ 21956977)_(2222459 0_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,956,977 | 22,224,590 |
| nssv15687251 | Remapped | Good | NC_000022.11:g.(?_ 21956977)_(2222459 0_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,956,977 | 22,224,590 |
| nssv15697737 | Remapped | Good | NC_000022.11:g.(?_ 21956977)_(2222459 0_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,956,977 | 22,224,590 |
| nssv15698613 | Remapped | Good | NC_000022.11:g.(?_ 21956977)_(2222459 0_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,956,977 | 22,224,590 |
| nssv15612031 | Submitted genomic | NC_000022.10:g.(?_ 22311349)_(2257898 3_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 22,311,349 | 22,578,983 | ||
| nssv15616011 | Submitted genomic | NC_000022.10:g.(?_ 22311349)_(2257898 3_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 22,311,349 | 22,578,983 | ||
| nssv15616030 | Submitted genomic | NC_000022.10:g.(?_ 22311349)_(2257898 3_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 22,311,349 | 22,578,983 | ||
| nssv15616142 | Submitted genomic | NC_000022.10:g.(?_ 22311349)_(2257898 3_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 22,311,349 | 22,578,983 | ||
| nssv15617370 | Submitted genomic | NC_000022.10:g.(?_ 22311349)_(2257898 3_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 22,311,349 | 22,578,983 | ||
| nssv15618073 | Submitted genomic | NC_000022.10:g.(?_ 22311349)_(2257898 3_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 22,311,349 | 22,578,983 | ||
| nssv15627689 | Submitted genomic | NC_000022.10:g.(?_ 22311349)_(2257898 3_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 22,311,349 | 22,578,983 | ||
| nssv15630151 | Submitted genomic | NC_000022.10:g.(?_ 22311349)_(2257898 3_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 22,311,349 | 22,578,983 | ||
| nssv15636913 | Submitted genomic | NC_000022.10:g.(?_ 22311349)_(2257898 3_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 22,311,349 | 22,578,983 | ||
| nssv15637642 | Submitted genomic | NC_000022.10:g.(?_ 22311349)_(2257898 3_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 22,311,349 | 22,578,983 | ||
| nssv15645917 | Submitted genomic | NC_000022.10:g.(?_ 22311349)_(2257898 3_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 22,311,349 | 22,578,983 | ||
| nssv15647069 | Submitted genomic | NC_000022.10:g.(?_ 22311349)_(2257898 3_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 22,311,349 | 22,578,983 | ||
| nssv15647976 | Submitted genomic | NC_000022.10:g.(?_ 22311349)_(2257898 3_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 22,311,349 | 22,578,983 | ||
| nssv15653108 | Submitted genomic | NC_000022.10:g.(?_ 22311349)_(2257898 3_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 22,311,349 | 22,578,983 | ||
| nssv15664953 | Submitted genomic | NC_000022.10:g.(?_ 22311349)_(2257898 3_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 22,311,349 | 22,578,983 | ||
| nssv15667725 | Submitted genomic | NC_000022.10:g.(?_ 22311349)_(2257898 3_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 22,311,349 | 22,578,983 | ||
| nssv15676391 | Submitted genomic | NC_000022.10:g.(?_ 22311349)_(2257898 3_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 22,311,349 | 22,578,983 | ||
| nssv15684247 | Submitted genomic | NC_000022.10:g.(?_ 22311349)_(2257898 3_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 22,311,349 | 22,578,983 | ||
| nssv15687251 | Submitted genomic | NC_000022.10:g.(?_ 22311349)_(2257898 3_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 22,311,349 | 22,578,983 | ||
| nssv15697737 | Submitted genomic | NC_000022.10:g.(?_ 22311349)_(2257898 3_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 22,311,349 | 22,578,983 | ||
| nssv15698613 | Submitted genomic | NC_000022.10:g.(?_ 22311349)_(2257898 3_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 22,311,349 | 22,578,983 |