nsv4379847
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:20
- Validation:Not tested
- Clinical Assertions: No
- Region Size:46,834
- 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: 876 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: 876 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4379847 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,452 |
| nsv4379847 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,677 |
| nsv4379847 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 72,773,260 | 72,811,135 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15625944 | copy number loss | 1-0432-005 | SNP array | Genotyping | 21 |
| nssv15627468 | copy number loss | 1-0483-002 | SNP array | Genotyping | 13 |
| nssv15639560 | copy number loss | 14-0238-003 | SNP array | Genotyping | 17 |
| nssv15640647 | copy number loss | 14-0349-004 | SNP array | Genotyping | 21 |
| nssv15645140 | copy number loss | 2-0503-004 | SNP array | Genotyping | 17 |
| nssv15655471 | copy number loss | 3-0119-000 | SNP array | Genotyping | 20 |
| nssv15662194 | copy number loss | 5-0119-002 | SNP array | Genotyping | 27 |
| nssv15662735 | copy number loss | 5-0134-002 | SNP array | Genotyping | 14 |
| nssv15663123 | copy number loss | 4-0050-004 | SNP array | Genotyping | 20 |
| nssv15667188 | copy number loss | 7-0147-003 | SNP array | Genotyping | 21 |
| nssv15675023 | copy number loss | 209351 | SNP array | Genotyping | 35 |
| nssv15682369 | copy number loss | OCD110-S_1652 | SNP array | Genotyping | 26 |
| nssv15686812 | copy number loss | OCD27-S_896532 | SNP array | Genotyping | 17 |
| nssv15693063 | copy number loss | OCD83-896812 | SNP array | Genotyping | 19 |
| nssv15693488 | copy number loss | OCD71-896302 | SNP array | Genotyping | 22 |
| nssv15693687 | copy number loss | OCD99-1550 | SNP array | Genotyping | 31 |
| nssv15694083 | copy number loss | 215689 | SNP array | Genotyping | 18 |
| nssv15696778 | copy number loss | 218861 | SNP array | Genotyping | 17 |
| nssv15699949 | copy number loss | 209017 | SNP array | Genotyping | 23 |
| nssv15700095 | copy number gain | 180296 | SNP array | Genotyping | 25 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15625944 | Remapped | Pass | NW_018654707.1:g.( ?_19844)_(66677_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,677 |
| nssv15627468 | Remapped | Pass | NW_018654707.1:g.( ?_19844)_(66677_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,677 |
| nssv15639560 | Remapped | Pass | NW_018654707.1:g.( ?_19844)_(66677_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,677 |
| nssv15640647 | Remapped | Pass | NW_018654707.1:g.( ?_19844)_(66677_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,677 |
| nssv15645140 | Remapped | Pass | NW_018654707.1:g.( ?_19844)_(66677_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,677 |
| nssv15655471 | Remapped | Pass | NW_018654707.1:g.( ?_19844)_(66677_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,677 |
| nssv15662194 | Remapped | Pass | NW_018654707.1:g.( ?_19844)_(66677_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,677 |
| nssv15662735 | Remapped | Pass | NW_018654707.1:g.( ?_19844)_(66677_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,677 |
| nssv15663123 | Remapped | Pass | NW_018654707.1:g.( ?_19844)_(66677_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,677 |
| nssv15667188 | Remapped | Pass | NW_018654707.1:g.( ?_19844)_(66677_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,677 |
| nssv15675023 | Remapped | Pass | NW_018654707.1:g.( ?_19844)_(66677_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,677 |
| nssv15682369 | Remapped | Pass | NW_018654707.1:g.( ?_19844)_(66677_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,677 |
| nssv15686812 | Remapped | Pass | NW_018654707.1:g.( ?_19844)_(66677_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,677 |
| nssv15693063 | Remapped | Pass | NW_018654707.1:g.( ?_19844)_(66677_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,677 |
| nssv15693488 | Remapped | Pass | NW_018654707.1:g.( ?_19844)_(66677_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,677 |
| nssv15693687 | Remapped | Pass | NW_018654707.1:g.( ?_19844)_(66677_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,677 |
| nssv15694083 | Remapped | Pass | NW_018654707.1:g.( ?_19844)_(66677_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,677 |
| nssv15696778 | Remapped | Pass | NW_018654707.1:g.( ?_19844)_(66677_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,677 |
| nssv15699949 | Remapped | Pass | NW_018654707.1:g.( ?_19844)_(66677_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,677 |
| nssv15700095 | Remapped | Pass | NW_018654707.1:g.( ?_19844)_(66677_?) dup | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 19,844 | 66,677 |
| nssv15625944 | Remapped | Perfect | NC_000001.11:g.(?_ 72307577)_(7234545 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,452 |
| nssv15627468 | Remapped | Perfect | NC_000001.11:g.(?_ 72307577)_(7234545 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,452 |
| nssv15639560 | Remapped | Perfect | NC_000001.11:g.(?_ 72307577)_(7234545 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,452 |
| nssv15640647 | Remapped | Perfect | NC_000001.11:g.(?_ 72307577)_(7234545 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,452 |
| nssv15645140 | Remapped | Perfect | NC_000001.11:g.(?_ 72307577)_(7234545 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,452 |
| nssv15655471 | Remapped | Perfect | NC_000001.11:g.(?_ 72307577)_(7234545 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,452 |
| nssv15662194 | Remapped | Perfect | NC_000001.11:g.(?_ 72307577)_(7234545 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,452 |
| nssv15662735 | Remapped | Perfect | NC_000001.11:g.(?_ 72307577)_(7234545 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,452 |
| nssv15663123 | Remapped | Perfect | NC_000001.11:g.(?_ 72307577)_(7234545 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,452 |
| nssv15667188 | Remapped | Perfect | NC_000001.11:g.(?_ 72307577)_(7234545 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,452 |
| nssv15675023 | Remapped | Perfect | NC_000001.11:g.(?_ 72307577)_(7234545 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,452 |
| nssv15682369 | Remapped | Perfect | NC_000001.11:g.(?_ 72307577)_(7234545 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,452 |
| nssv15686812 | Remapped | Perfect | NC_000001.11:g.(?_ 72307577)_(7234545 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,452 |
| nssv15693063 | Remapped | Perfect | NC_000001.11:g.(?_ 72307577)_(7234545 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,452 |
| nssv15693488 | Remapped | Perfect | NC_000001.11:g.(?_ 72307577)_(7234545 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,452 |
| nssv15693687 | Remapped | Perfect | NC_000001.11:g.(?_ 72307577)_(7234545 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,452 |
| nssv15694083 | Remapped | Perfect | NC_000001.11:g.(?_ 72307577)_(7234545 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,452 |
| nssv15696778 | Remapped | Perfect | NC_000001.11:g.(?_ 72307577)_(7234545 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,452 |
| nssv15699949 | Remapped | Perfect | NC_000001.11:g.(?_ 72307577)_(7234545 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,452 |
| nssv15700095 | Remapped | Perfect | NC_000001.11:g.(?_ 72307577)_(7234545 2_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,307,577 | 72,345,452 |
| nssv15625944 | Submitted genomic | NC_000001.10:g.(?_ 72773260)_(7281113 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,773,260 | 72,811,135 | ||
| nssv15627468 | Submitted genomic | NC_000001.10:g.(?_ 72773260)_(7281113 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,773,260 | 72,811,135 | ||
| nssv15639560 | Submitted genomic | NC_000001.10:g.(?_ 72773260)_(7281113 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,773,260 | 72,811,135 | ||
| nssv15640647 | Submitted genomic | NC_000001.10:g.(?_ 72773260)_(7281113 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,773,260 | 72,811,135 | ||
| nssv15645140 | Submitted genomic | NC_000001.10:g.(?_ 72773260)_(7281113 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,773,260 | 72,811,135 | ||
| nssv15655471 | Submitted genomic | NC_000001.10:g.(?_ 72773260)_(7281113 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,773,260 | 72,811,135 | ||
| nssv15662194 | Submitted genomic | NC_000001.10:g.(?_ 72773260)_(7281113 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,773,260 | 72,811,135 | ||
| nssv15662735 | Submitted genomic | NC_000001.10:g.(?_ 72773260)_(7281113 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,773,260 | 72,811,135 | ||
| nssv15663123 | Submitted genomic | NC_000001.10:g.(?_ 72773260)_(7281113 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,773,260 | 72,811,135 | ||
| nssv15667188 | Submitted genomic | NC_000001.10:g.(?_ 72773260)_(7281113 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,773,260 | 72,811,135 | ||
| nssv15675023 | Submitted genomic | NC_000001.10:g.(?_ 72773260)_(7281113 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,773,260 | 72,811,135 | ||
| nssv15682369 | Submitted genomic | NC_000001.10:g.(?_ 72773260)_(7281113 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,773,260 | 72,811,135 | ||
| nssv15686812 | Submitted genomic | NC_000001.10:g.(?_ 72773260)_(7281113 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,773,260 | 72,811,135 | ||
| nssv15693063 | Submitted genomic | NC_000001.10:g.(?_ 72773260)_(7281113 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,773,260 | 72,811,135 | ||
| nssv15693488 | Submitted genomic | NC_000001.10:g.(?_ 72773260)_(7281113 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,773,260 | 72,811,135 | ||
| nssv15693687 | Submitted genomic | NC_000001.10:g.(?_ 72773260)_(7281113 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,773,260 | 72,811,135 | ||
| nssv15694083 | Submitted genomic | NC_000001.10:g.(?_ 72773260)_(7281113 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,773,260 | 72,811,135 | ||
| nssv15696778 | Submitted genomic | NC_000001.10:g.(?_ 72773260)_(7281113 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,773,260 | 72,811,135 | ||
| nssv15699949 | Submitted genomic | NC_000001.10:g.(?_ 72773260)_(7281113 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,773,260 | 72,811,135 | ||
| nssv15700095 | Submitted genomic | NC_000001.10:g.(?_ 72773260)_(7281113 5_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,773,260 | 72,811,135 |