nsv4380946
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:14
- Validation:Not tested
- Clinical Assertions: No
- Region Size:54,131
- 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: 229 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 507 SVs from 62 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4380946 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,229,071 | 2,283,201 |
| nsv4380946 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 36,350,006 | 36,404,136 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15615377 | copy number loss | 1-0770-003 | SNP array | Genotyping | 23 |
| nssv15628700 | copy number gain | 1-0067-004 | SNP array | Genotyping | 22 |
| nssv15632584 | copy number loss | 10-1005-005 | SNP array | Genotyping | 20 |
| nssv15636092 | copy number gain | 13-0099-004 | SNP array | Genotyping | 23 |
| nssv15639294 | copy number gain | 14-0284-004 | SNP array | Genotyping | 28 |
| nssv15644747 | copy number gain | 16-1001-003 | SNP array | Genotyping | 29 |
| nssv15654704 | copy number loss | 3-0193-000 | SNP array | Genotyping | 19 |
| nssv15655553 | copy number loss | 3-0437-000 | SNP array | Genotyping | 25 |
| nssv15678804 | copy number loss | 174227 | SNP array | Genotyping | 12 |
| nssv15678919 | copy number gain | 190779 | SNP array | Genotyping | 26 |
| nssv15684963 | copy number loss | OCD156-ba-1278(190003) | SNP array | Genotyping | 26 |
| nssv15691323 | copy number loss | OCD41-S_0625-2251-1 | SNP array | Genotyping | 22 |
| nssv15701780 | copy number loss | 154659 | SNP array | Genotyping | 21 |
| nssv15701890 | copy number loss | 168209 | SNP array | Genotyping | 19 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15615377 | Remapped | Perfect | NT_187614.1:g.(?_2 229071)_(2283201_? )del | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,229,071 | 2,283,201 |
| nssv15628700 | Remapped | Perfect | NT_187614.1:g.(?_2 229071)_(2283201_? )dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,229,071 | 2,283,201 |
| nssv15632584 | Remapped | Perfect | NT_187614.1:g.(?_2 229071)_(2283201_? )del | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,229,071 | 2,283,201 |
| nssv15636092 | Remapped | Perfect | NT_187614.1:g.(?_2 229071)_(2283201_? )dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,229,071 | 2,283,201 |
| nssv15639294 | Remapped | Perfect | NT_187614.1:g.(?_2 229071)_(2283201_? )dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,229,071 | 2,283,201 |
| nssv15644747 | Remapped | Perfect | NT_187614.1:g.(?_2 229071)_(2283201_? )dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,229,071 | 2,283,201 |
| nssv15654704 | Remapped | Perfect | NT_187614.1:g.(?_2 229071)_(2283201_? )del | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,229,071 | 2,283,201 |
| nssv15655553 | Remapped | Perfect | NT_187614.1:g.(?_2 229071)_(2283201_? )del | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,229,071 | 2,283,201 |
| nssv15678804 | Remapped | Perfect | NT_187614.1:g.(?_2 229071)_(2283201_? )del | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,229,071 | 2,283,201 |
| nssv15678919 | Remapped | Perfect | NT_187614.1:g.(?_2 229071)_(2283201_? )dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,229,071 | 2,283,201 |
| nssv15684963 | Remapped | Perfect | NT_187614.1:g.(?_2 229071)_(2283201_? )del | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,229,071 | 2,283,201 |
| nssv15691323 | Remapped | Perfect | NT_187614.1:g.(?_2 229071)_(2283201_? )del | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,229,071 | 2,283,201 |
| nssv15701780 | Remapped | Perfect | NT_187614.1:g.(?_2 229071)_(2283201_? )del | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,229,071 | 2,283,201 |
| nssv15701890 | Remapped | Perfect | NT_187614.1:g.(?_2 229071)_(2283201_? )del | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,229,071 | 2,283,201 |
| nssv15615377 | Submitted genomic | NC_000017.10:g.(?_ 36350006)_(3640413 6_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,350,006 | 36,404,136 | ||
| nssv15628700 | Submitted genomic | NC_000017.10:g.(?_ 36350006)_(3640413 6_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,350,006 | 36,404,136 | ||
| nssv15632584 | Submitted genomic | NC_000017.10:g.(?_ 36350006)_(3640413 6_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,350,006 | 36,404,136 | ||
| nssv15636092 | Submitted genomic | NC_000017.10:g.(?_ 36350006)_(3640413 6_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,350,006 | 36,404,136 | ||
| nssv15639294 | Submitted genomic | NC_000017.10:g.(?_ 36350006)_(3640413 6_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,350,006 | 36,404,136 | ||
| nssv15644747 | Submitted genomic | NC_000017.10:g.(?_ 36350006)_(3640413 6_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,350,006 | 36,404,136 | ||
| nssv15654704 | Submitted genomic | NC_000017.10:g.(?_ 36350006)_(3640413 6_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,350,006 | 36,404,136 | ||
| nssv15655553 | Submitted genomic | NC_000017.10:g.(?_ 36350006)_(3640413 6_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,350,006 | 36,404,136 | ||
| nssv15678804 | Submitted genomic | NC_000017.10:g.(?_ 36350006)_(3640413 6_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,350,006 | 36,404,136 | ||
| nssv15678919 | Submitted genomic | NC_000017.10:g.(?_ 36350006)_(3640413 6_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,350,006 | 36,404,136 | ||
| nssv15684963 | Submitted genomic | NC_000017.10:g.(?_ 36350006)_(3640413 6_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,350,006 | 36,404,136 | ||
| nssv15691323 | Submitted genomic | NC_000017.10:g.(?_ 36350006)_(3640413 6_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,350,006 | 36,404,136 | ||
| nssv15701780 | Submitted genomic | NC_000017.10:g.(?_ 36350006)_(3640413 6_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,350,006 | 36,404,136 | ||
| nssv15701890 | Submitted genomic | NC_000017.10:g.(?_ 36350006)_(3640413 6_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,350,006 | 36,404,136 |