nsv4381092
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:18
- Validation:Not tested
- Clinical Assertions: No
- Region Size:46,624
- 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: 875 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 688 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 875 SVs from 86 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4381092 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,242 |
| nsv4381092 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,467 |
| nsv4381092 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 72,773,260 | 72,810,925 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15628363 | copy number loss | 1-0517-008 | SNP array | Genotyping | 19 |
| nssv15632557 | copy number loss | 10-1005-004 | SNP array | Genotyping | 16 |
| nssv15639630 | copy number loss | 14-0261-003 | SNP array | Genotyping | 11 |
| nssv15648578 | copy number loss | 2-1246-002 | SNP array | Genotyping | 23 |
| nssv15650742 | copy number loss | 2-1363-003 | SNP array | Genotyping | 26 |
| nssv15651479 | copy number loss | 2-1437-003 | SNP array | Genotyping | 21 |
| nssv15653032 | copy number loss | 2-1584-003 | SNP array | Genotyping | 20 |
| nssv15654773 | copy number loss | 3-0269-001 | SNP array | Genotyping | 17 |
| nssv15657853 | copy number loss | 3-0396-000 | SNP array | Genotyping | 17 |
| nssv15659656 | copy number loss | 4-0034-002 | SNP array | Genotyping | 24 |
| nssv15663911 | copy number loss | 5-0142-003 | SNP array | Genotyping | 25 |
| nssv15675426 | copy number loss | 213048 | SNP array | Genotyping | 21 |
| nssv15676622 | copy number loss | 176714 | SNP array | Genotyping | 18 |
| nssv15678812 | copy number loss | 176003 | SNP array | Genotyping | 21 |
| nssv15684993 | copy number loss | OCD157-EB-1282(190114) | SNP array | Genotyping | 17 |
| nssv15688699 | copy number loss | OCD44-B_AH-1374 | SNP array | Genotyping | 19 |
| nssv15690721 | copy number loss | OCD16-B_MW-1424 | SNP array | Genotyping | 20 |
| nssv15699576 | copy number loss | 195562 | SNP array | Genotyping | 15 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15628363 | Remapped | Pass | NW_018654707.1:g.( ?_19844)_(66467_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,467 |
| nssv15632557 | Remapped | Pass | NW_018654707.1:g.( ?_19844)_(66467_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,467 |
| nssv15639630 | Remapped | Pass | NW_018654707.1:g.( ?_19844)_(66467_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,467 |
| nssv15648578 | Remapped | Pass | NW_018654707.1:g.( ?_19844)_(66467_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,467 |
| nssv15650742 | Remapped | Pass | NW_018654707.1:g.( ?_19844)_(66467_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,467 |
| nssv15651479 | Remapped | Pass | NW_018654707.1:g.( ?_19844)_(66467_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,467 |
| nssv15653032 | Remapped | Pass | NW_018654707.1:g.( ?_19844)_(66467_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,467 |
| nssv15654773 | Remapped | Pass | NW_018654707.1:g.( ?_19844)_(66467_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,467 |
| nssv15657853 | Remapped | Pass | NW_018654707.1:g.( ?_19844)_(66467_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,467 |
| nssv15659656 | Remapped | Pass | NW_018654707.1:g.( ?_19844)_(66467_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,467 |
| nssv15663911 | Remapped | Pass | NW_018654707.1:g.( ?_19844)_(66467_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,467 |
| nssv15675426 | Remapped | Pass | NW_018654707.1:g.( ?_19844)_(66467_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,467 |
| nssv15676622 | Remapped | Pass | NW_018654707.1:g.( ?_19844)_(66467_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,467 |
| nssv15678812 | Remapped | Pass | NW_018654707.1:g.( ?_19844)_(66467_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,467 |
| nssv15684993 | Remapped | Pass | NW_018654707.1:g.( ?_19844)_(66467_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,467 |
| nssv15688699 | Remapped | Pass | NW_018654707.1:g.( ?_19844)_(66467_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,467 |
| nssv15690721 | Remapped | Pass | NW_018654707.1:g.( ?_19844)_(66467_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,467 |
| nssv15699576 | Remapped | Pass | NW_018654707.1:g.( ?_19844)_(66467_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,467 |
| nssv15628363 | Remapped | Perfect | NC_000001.11:g.(?_ 72307577)_(7234524 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,242 |
| nssv15632557 | Remapped | Perfect | NC_000001.11:g.(?_ 72307577)_(7234524 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,242 |
| nssv15639630 | Remapped | Perfect | NC_000001.11:g.(?_ 72307577)_(7234524 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,242 |
| nssv15648578 | Remapped | Perfect | NC_000001.11:g.(?_ 72307577)_(7234524 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,242 |
| nssv15650742 | Remapped | Perfect | NC_000001.11:g.(?_ 72307577)_(7234524 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,242 |
| nssv15651479 | Remapped | Perfect | NC_000001.11:g.(?_ 72307577)_(7234524 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,242 |
| nssv15653032 | Remapped | Perfect | NC_000001.11:g.(?_ 72307577)_(7234524 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,242 |
| nssv15654773 | Remapped | Perfect | NC_000001.11:g.(?_ 72307577)_(7234524 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,242 |
| nssv15657853 | Remapped | Perfect | NC_000001.11:g.(?_ 72307577)_(7234524 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,242 |
| nssv15659656 | Remapped | Perfect | NC_000001.11:g.(?_ 72307577)_(7234524 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,242 |
| nssv15663911 | Remapped | Perfect | NC_000001.11:g.(?_ 72307577)_(7234524 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,242 |
| nssv15675426 | Remapped | Perfect | NC_000001.11:g.(?_ 72307577)_(7234524 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,242 |
| nssv15676622 | Remapped | Perfect | NC_000001.11:g.(?_ 72307577)_(7234524 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,242 |
| nssv15678812 | Remapped | Perfect | NC_000001.11:g.(?_ 72307577)_(7234524 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,242 |
| nssv15684993 | Remapped | Perfect | NC_000001.11:g.(?_ 72307577)_(7234524 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,242 |
| nssv15688699 | Remapped | Perfect | NC_000001.11:g.(?_ 72307577)_(7234524 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,242 |
| nssv15690721 | Remapped | Perfect | NC_000001.11:g.(?_ 72307577)_(7234524 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,242 |
| nssv15699576 | Remapped | Perfect | NC_000001.11:g.(?_ 72307577)_(7234524 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,242 |
| nssv15628363 | Submitted genomic | NC_000001.10:g.(?_ 72773260)_(7281092 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,773,260 | 72,810,925 | ||
| nssv15632557 | Submitted genomic | NC_000001.10:g.(?_ 72773260)_(7281092 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,773,260 | 72,810,925 | ||
| nssv15639630 | Submitted genomic | NC_000001.10:g.(?_ 72773260)_(7281092 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,773,260 | 72,810,925 | ||
| nssv15648578 | Submitted genomic | NC_000001.10:g.(?_ 72773260)_(7281092 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,773,260 | 72,810,925 | ||
| nssv15650742 | Submitted genomic | NC_000001.10:g.(?_ 72773260)_(7281092 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,773,260 | 72,810,925 | ||
| nssv15651479 | Submitted genomic | NC_000001.10:g.(?_ 72773260)_(7281092 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,773,260 | 72,810,925 | ||
| nssv15653032 | Submitted genomic | NC_000001.10:g.(?_ 72773260)_(7281092 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,773,260 | 72,810,925 | ||
| nssv15654773 | Submitted genomic | NC_000001.10:g.(?_ 72773260)_(7281092 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,773,260 | 72,810,925 | ||
| nssv15657853 | Submitted genomic | NC_000001.10:g.(?_ 72773260)_(7281092 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,773,260 | 72,810,925 | ||
| nssv15659656 | Submitted genomic | NC_000001.10:g.(?_ 72773260)_(7281092 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,773,260 | 72,810,925 | ||
| nssv15663911 | Submitted genomic | NC_000001.10:g.(?_ 72773260)_(7281092 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,773,260 | 72,810,925 | ||
| nssv15675426 | Submitted genomic | NC_000001.10:g.(?_ 72773260)_(7281092 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,773,260 | 72,810,925 | ||
| nssv15676622 | Submitted genomic | NC_000001.10:g.(?_ 72773260)_(7281092 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,773,260 | 72,810,925 | ||
| nssv15678812 | Submitted genomic | NC_000001.10:g.(?_ 72773260)_(7281092 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,773,260 | 72,810,925 | ||
| nssv15684993 | Submitted genomic | NC_000001.10:g.(?_ 72773260)_(7281092 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,773,260 | 72,810,925 | ||
| nssv15688699 | Submitted genomic | NC_000001.10:g.(?_ 72773260)_(7281092 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,773,260 | 72,810,925 | ||
| nssv15690721 | Submitted genomic | NC_000001.10:g.(?_ 72773260)_(7281092 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,773,260 | 72,810,925 | ||
| nssv15699576 | Submitted genomic | NC_000001.10:g.(?_ 72773260)_(7281092 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,773,260 | 72,810,925 |