nsv4376840
- 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:46,967
- 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: 637 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 331 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 635 SVs from 84 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4376840 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 49,689,152 | 49,736,118 |
| nsv4376840 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 153,334 | 200,267 |
| nsv4376840 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 49,710,704 | 49,757,670 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15626930 | copy number loss | 1-0458-001 | SNP array | Genotyping | 20 |
| nssv15633165 | copy number loss | 11-0011-003 | SNP array | Genotyping | 19 |
| nssv15642625 | copy number loss | 15-1133-003 | SNP array | Genotyping | 23 |
| nssv15642938 | copy number loss | 15-1130-004 | SNP array | Genotyping | 20 |
| nssv15645490 | copy number loss | 2-0299-002 | SNP array | Genotyping | 20 |
| nssv15647490 | copy number loss | 2-0210-005 | SNP array | Genotyping | 18 |
| nssv15647713 | copy number loss | 2-0318-004 | SNP array | Genotyping | 20 |
| nssv15650812 | copy number loss | 2-1370-002 | SNP array | Genotyping | 14 |
| nssv15651241 | copy number loss | 2-1369-002 | SNP array | Genotyping | 14 |
| nssv15651254 | copy number loss | 2-1369-003 | SNP array | Genotyping | 18 |
| nssv15651293 | copy number loss | 2-1370-003 | SNP array | Genotyping | 18 |
| nssv15655389 | copy number loss | 3-0107-000 | SNP array | Genotyping | 21 |
| nssv15655411 | copy number loss | 3-0107-001 | SNP array | Genotyping | 23 |
| nssv15655454 | copy number loss | 3-0107-101 | SNP array | Genotyping | 18 |
| nssv15656456 | copy number loss | 2-1719-003 | SNP array | Genotyping | 19 |
| nssv15661862 | copy number loss | 4-0042-003 | SNP array | Genotyping | 15 |
| nssv15663473 | copy number loss | 5-0131-002 | SNP array | Genotyping | 20 |
| nssv15667652 | copy number loss | 5-1001-003 | SNP array | Genotyping | 21 |
| nssv15669726 | copy number loss | 7-0239-003 | SNP array | Genotyping | 23 |
| nssv15695602 | copy number loss | 211990 | SNP array | Genotyping | 13 |
| nssv15698923 | copy number loss | 178830 | SNP array | Genotyping | 22 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15626930 | Remapped | Good | NW_019805495.1:g.( ?_153334)_(200267_ ?)del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 153,334 | 200,267 |
| nssv15633165 | Remapped | Good | NW_019805495.1:g.( ?_153334)_(200267_ ?)del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 153,334 | 200,267 |
| nssv15642625 | Remapped | Good | NW_019805495.1:g.( ?_153334)_(200267_ ?)del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 153,334 | 200,267 |
| nssv15642938 | Remapped | Good | NW_019805495.1:g.( ?_153334)_(200267_ ?)del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 153,334 | 200,267 |
| nssv15645490 | Remapped | Good | NW_019805495.1:g.( ?_153334)_(200267_ ?)del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 153,334 | 200,267 |
| nssv15647490 | Remapped | Good | NW_019805495.1:g.( ?_153334)_(200267_ ?)del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 153,334 | 200,267 |
| nssv15647713 | Remapped | Good | NW_019805495.1:g.( ?_153334)_(200267_ ?)del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 153,334 | 200,267 |
| nssv15650812 | Remapped | Good | NW_019805495.1:g.( ?_153334)_(200267_ ?)del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 153,334 | 200,267 |
| nssv15651241 | Remapped | Good | NW_019805495.1:g.( ?_153334)_(200267_ ?)del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 153,334 | 200,267 |
| nssv15651254 | Remapped | Good | NW_019805495.1:g.( ?_153334)_(200267_ ?)del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 153,334 | 200,267 |
| nssv15651293 | Remapped | Good | NW_019805495.1:g.( ?_153334)_(200267_ ?)del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 153,334 | 200,267 |
| nssv15655389 | Remapped | Good | NW_019805495.1:g.( ?_153334)_(200267_ ?)del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 153,334 | 200,267 |
| nssv15655411 | Remapped | Good | NW_019805495.1:g.( ?_153334)_(200267_ ?)del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 153,334 | 200,267 |
| nssv15655454 | Remapped | Good | NW_019805495.1:g.( ?_153334)_(200267_ ?)del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 153,334 | 200,267 |
| nssv15656456 | Remapped | Good | NW_019805495.1:g.( ?_153334)_(200267_ ?)del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 153,334 | 200,267 |
| nssv15661862 | Remapped | Good | NW_019805495.1:g.( ?_153334)_(200267_ ?)del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 153,334 | 200,267 |
| nssv15663473 | Remapped | Good | NW_019805495.1:g.( ?_153334)_(200267_ ?)del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 153,334 | 200,267 |
| nssv15667652 | Remapped | Good | NW_019805495.1:g.( ?_153334)_(200267_ ?)del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 153,334 | 200,267 |
| nssv15669726 | Remapped | Good | NW_019805495.1:g.( ?_153334)_(200267_ ?)del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 153,334 | 200,267 |
| nssv15695602 | Remapped | Good | NW_019805495.1:g.( ?_153334)_(200267_ ?)del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 153,334 | 200,267 |
| nssv15698923 | Remapped | Good | NW_019805495.1:g.( ?_153334)_(200267_ ?)del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 153,334 | 200,267 |
| nssv15626930 | Remapped | Perfect | NC_000011.10:g.(?_ 49689152)_(4973611 8_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,689,152 | 49,736,118 |
| nssv15633165 | Remapped | Perfect | NC_000011.10:g.(?_ 49689152)_(4973611 8_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,689,152 | 49,736,118 |
| nssv15642625 | Remapped | Perfect | NC_000011.10:g.(?_ 49689152)_(4973611 8_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,689,152 | 49,736,118 |
| nssv15642938 | Remapped | Perfect | NC_000011.10:g.(?_ 49689152)_(4973611 8_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,689,152 | 49,736,118 |
| nssv15645490 | Remapped | Perfect | NC_000011.10:g.(?_ 49689152)_(4973611 8_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,689,152 | 49,736,118 |
| nssv15647490 | Remapped | Perfect | NC_000011.10:g.(?_ 49689152)_(4973611 8_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,689,152 | 49,736,118 |
| nssv15647713 | Remapped | Perfect | NC_000011.10:g.(?_ 49689152)_(4973611 8_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,689,152 | 49,736,118 |
| nssv15650812 | Remapped | Perfect | NC_000011.10:g.(?_ 49689152)_(4973611 8_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,689,152 | 49,736,118 |
| nssv15651241 | Remapped | Perfect | NC_000011.10:g.(?_ 49689152)_(4973611 8_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,689,152 | 49,736,118 |
| nssv15651254 | Remapped | Perfect | NC_000011.10:g.(?_ 49689152)_(4973611 8_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,689,152 | 49,736,118 |
| nssv15651293 | Remapped | Perfect | NC_000011.10:g.(?_ 49689152)_(4973611 8_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,689,152 | 49,736,118 |
| nssv15655389 | Remapped | Perfect | NC_000011.10:g.(?_ 49689152)_(4973611 8_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,689,152 | 49,736,118 |
| nssv15655411 | Remapped | Perfect | NC_000011.10:g.(?_ 49689152)_(4973611 8_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,689,152 | 49,736,118 |
| nssv15655454 | Remapped | Perfect | NC_000011.10:g.(?_ 49689152)_(4973611 8_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,689,152 | 49,736,118 |
| nssv15656456 | Remapped | Perfect | NC_000011.10:g.(?_ 49689152)_(4973611 8_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,689,152 | 49,736,118 |
| nssv15661862 | Remapped | Perfect | NC_000011.10:g.(?_ 49689152)_(4973611 8_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,689,152 | 49,736,118 |
| nssv15663473 | Remapped | Perfect | NC_000011.10:g.(?_ 49689152)_(4973611 8_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,689,152 | 49,736,118 |
| nssv15667652 | Remapped | Perfect | NC_000011.10:g.(?_ 49689152)_(4973611 8_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,689,152 | 49,736,118 |
| nssv15669726 | Remapped | Perfect | NC_000011.10:g.(?_ 49689152)_(4973611 8_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,689,152 | 49,736,118 |
| nssv15695602 | Remapped | Perfect | NC_000011.10:g.(?_ 49689152)_(4973611 8_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,689,152 | 49,736,118 |
| nssv15698923 | Remapped | Perfect | NC_000011.10:g.(?_ 49689152)_(4973611 8_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,689,152 | 49,736,118 |
| nssv15626930 | Submitted genomic | NC_000011.9:g.(?_4 9710704)_(49757670 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 49,710,704 | 49,757,670 | ||
| nssv15633165 | Submitted genomic | NC_000011.9:g.(?_4 9710704)_(49757670 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 49,710,704 | 49,757,670 | ||
| nssv15642625 | Submitted genomic | NC_000011.9:g.(?_4 9710704)_(49757670 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 49,710,704 | 49,757,670 | ||
| nssv15642938 | Submitted genomic | NC_000011.9:g.(?_4 9710704)_(49757670 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 49,710,704 | 49,757,670 | ||
| nssv15645490 | Submitted genomic | NC_000011.9:g.(?_4 9710704)_(49757670 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 49,710,704 | 49,757,670 | ||
| nssv15647490 | Submitted genomic | NC_000011.9:g.(?_4 9710704)_(49757670 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 49,710,704 | 49,757,670 | ||
| nssv15647713 | Submitted genomic | NC_000011.9:g.(?_4 9710704)_(49757670 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 49,710,704 | 49,757,670 | ||
| nssv15650812 | Submitted genomic | NC_000011.9:g.(?_4 9710704)_(49757670 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 49,710,704 | 49,757,670 | ||
| nssv15651241 | Submitted genomic | NC_000011.9:g.(?_4 9710704)_(49757670 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 49,710,704 | 49,757,670 | ||
| nssv15651254 | Submitted genomic | NC_000011.9:g.(?_4 9710704)_(49757670 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 49,710,704 | 49,757,670 | ||
| nssv15651293 | Submitted genomic | NC_000011.9:g.(?_4 9710704)_(49757670 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 49,710,704 | 49,757,670 | ||
| nssv15655389 | Submitted genomic | NC_000011.9:g.(?_4 9710704)_(49757670 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 49,710,704 | 49,757,670 | ||
| nssv15655411 | Submitted genomic | NC_000011.9:g.(?_4 9710704)_(49757670 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 49,710,704 | 49,757,670 | ||
| nssv15655454 | Submitted genomic | NC_000011.9:g.(?_4 9710704)_(49757670 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 49,710,704 | 49,757,670 | ||
| nssv15656456 | Submitted genomic | NC_000011.9:g.(?_4 9710704)_(49757670 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 49,710,704 | 49,757,670 | ||
| nssv15661862 | Submitted genomic | NC_000011.9:g.(?_4 9710704)_(49757670 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 49,710,704 | 49,757,670 | ||
| nssv15663473 | Submitted genomic | NC_000011.9:g.(?_4 9710704)_(49757670 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 49,710,704 | 49,757,670 | ||
| nssv15667652 | Submitted genomic | NC_000011.9:g.(?_4 9710704)_(49757670 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 49,710,704 | 49,757,670 | ||
| nssv15669726 | Submitted genomic | NC_000011.9:g.(?_4 9710704)_(49757670 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 49,710,704 | 49,757,670 | ||
| nssv15695602 | Submitted genomic | NC_000011.9:g.(?_4 9710704)_(49757670 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 49,710,704 | 49,757,670 | ||
| nssv15698923 | Submitted genomic | NC_000011.9:g.(?_4 9710704)_(49757670 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 49,710,704 | 49,757,670 |