nsv4377921
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:15
- Validation:Not tested
- Clinical Assertions: No
- Region Size:120,749
- 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: 366 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 634 SVs from 66 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4377921 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,162,872 | 2,283,620 |
| nsv4377921 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 36,283,807 | 36,404,555 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15616958 | copy number loss | 1-0827-003 | SNP array | Genotyping | 29 |
| nssv15617896 | copy number loss | 1-0876-001 | SNP array | Genotyping | 15 |
| nssv15618913 | copy number loss | 1-0894-003 | SNP array | Genotyping | 18 |
| nssv15620707 | copy number gain | 1-0993-003 | SNP array | Genotyping | 21 |
| nssv15624271 | copy number loss | 1-0263-003 | SNP array | Genotyping | 17 |
| nssv15624536 | copy number loss | 1-0299-002 | SNP array | Genotyping | 15 |
| nssv15634511 | copy number loss | 11-0048-003 | SNP array | Genotyping | 35 |
| nssv15646810 | copy number loss | 2-1089-001 | SNP array | Genotyping | 20 |
| nssv15659297 | copy number loss | 4-0075-002 | SNP array | Genotyping | 21 |
| nssv15665959 | copy number gain | 5-0025-003 | SNP array | Genotyping | 27 |
| nssv15677357 | copy number gain | 242269S | SNP array | Genotyping | 26 |
| nssv15688149 | copy number gain | 209354 | SNP array | Genotyping | 18 |
| nssv15689078 | copy number loss | 228232 | SNP array | Genotyping | 15 |
| nssv15692816 | copy number gain | OCD73-896562 | SNP array | Genotyping | 14 |
| nssv15693070 | copy number loss | OCD83-896812 | SNP array | Genotyping | 19 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15616958 | Remapped | Perfect | NT_187614.1:g.(?_2 162872)_(2283620_? )del | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,162,872 | 2,283,620 |
| nssv15617896 | Remapped | Perfect | NT_187614.1:g.(?_2 162872)_(2283620_? )del | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,162,872 | 2,283,620 |
| nssv15618913 | Remapped | Perfect | NT_187614.1:g.(?_2 162872)_(2283620_? )del | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,162,872 | 2,283,620 |
| nssv15620707 | Remapped | Perfect | NT_187614.1:g.(?_2 162872)_(2283620_? )dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,162,872 | 2,283,620 |
| nssv15624271 | Remapped | Perfect | NT_187614.1:g.(?_2 162872)_(2283620_? )del | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,162,872 | 2,283,620 |
| nssv15624536 | Remapped | Perfect | NT_187614.1:g.(?_2 162872)_(2283620_? )del | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,162,872 | 2,283,620 |
| nssv15634511 | Remapped | Perfect | NT_187614.1:g.(?_2 162872)_(2283620_? )del | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,162,872 | 2,283,620 |
| nssv15646810 | Remapped | Perfect | NT_187614.1:g.(?_2 162872)_(2283620_? )del | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,162,872 | 2,283,620 |
| nssv15659297 | Remapped | Perfect | NT_187614.1:g.(?_2 162872)_(2283620_? )del | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,162,872 | 2,283,620 |
| nssv15665959 | Remapped | Perfect | NT_187614.1:g.(?_2 162872)_(2283620_? )dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,162,872 | 2,283,620 |
| nssv15677357 | Remapped | Perfect | NT_187614.1:g.(?_2 162872)_(2283620_? )dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,162,872 | 2,283,620 |
| nssv15688149 | Remapped | Perfect | NT_187614.1:g.(?_2 162872)_(2283620_? )dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,162,872 | 2,283,620 |
| nssv15689078 | Remapped | Perfect | NT_187614.1:g.(?_2 162872)_(2283620_? )del | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,162,872 | 2,283,620 |
| nssv15692816 | Remapped | Perfect | NT_187614.1:g.(?_2 162872)_(2283620_? )dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,162,872 | 2,283,620 |
| nssv15693070 | Remapped | Perfect | NT_187614.1:g.(?_2 162872)_(2283620_? )del | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,162,872 | 2,283,620 |
| nssv15616958 | Submitted genomic | NC_000017.10:g.(?_ 36283807)_(3640455 5_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,283,807 | 36,404,555 | ||
| nssv15617896 | Submitted genomic | NC_000017.10:g.(?_ 36283807)_(3640455 5_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,283,807 | 36,404,555 | ||
| nssv15618913 | Submitted genomic | NC_000017.10:g.(?_ 36283807)_(3640455 5_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,283,807 | 36,404,555 | ||
| nssv15620707 | Submitted genomic | NC_000017.10:g.(?_ 36283807)_(3640455 5_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,283,807 | 36,404,555 | ||
| nssv15624271 | Submitted genomic | NC_000017.10:g.(?_ 36283807)_(3640455 5_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,283,807 | 36,404,555 | ||
| nssv15624536 | Submitted genomic | NC_000017.10:g.(?_ 36283807)_(3640455 5_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,283,807 | 36,404,555 | ||
| nssv15634511 | Submitted genomic | NC_000017.10:g.(?_ 36283807)_(3640455 5_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,283,807 | 36,404,555 | ||
| nssv15646810 | Submitted genomic | NC_000017.10:g.(?_ 36283807)_(3640455 5_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,283,807 | 36,404,555 | ||
| nssv15659297 | Submitted genomic | NC_000017.10:g.(?_ 36283807)_(3640455 5_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,283,807 | 36,404,555 | ||
| nssv15665959 | Submitted genomic | NC_000017.10:g.(?_ 36283807)_(3640455 5_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,283,807 | 36,404,555 | ||
| nssv15677357 | Submitted genomic | NC_000017.10:g.(?_ 36283807)_(3640455 5_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,283,807 | 36,404,555 | ||
| nssv15688149 | Submitted genomic | NC_000017.10:g.(?_ 36283807)_(3640455 5_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,283,807 | 36,404,555 | ||
| nssv15689078 | Submitted genomic | NC_000017.10:g.(?_ 36283807)_(3640455 5_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,283,807 | 36,404,555 | ||
| nssv15692816 | Submitted genomic | NC_000017.10:g.(?_ 36283807)_(3640455 5_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,283,807 | 36,404,555 | ||
| nssv15693070 | Submitted genomic | NC_000017.10:g.(?_ 36283807)_(3640455 5_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,283,807 | 36,404,555 |