nsv4381786
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:12
- Validation:Not tested
- Clinical Assertions: No
- Region Size:66,925
- 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: 2862 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 1291 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 2466 SVs from 93 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4381786 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 46,135,470 | 46,202,394 |
| nsv4381786 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 837,577 | 904,496 |
| nsv4381786 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 44,212,836 | 44,279,760 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15611790 | copy number gain | 1-0655-003 | SNP array | Genotyping | 23 |
| nssv15613137 | copy number gain | 1-0677-001 | SNP array | Genotyping | 26 |
| nssv15616493 | copy number gain | 1-0846-003 | SNP array | Genotyping | 26 |
| nssv15625171 | copy number gain | 1-0389-003 | SNP array | Genotyping | 20 |
| nssv15626145 | copy number gain | 1-0435-003 | SNP array | Genotyping | 22 |
| nssv15626672 | copy number gain | 1-0465-002 | SNP array | Genotyping | 16 |
| nssv15632962 | copy number gain | 10-1076-005 | SNP array | Genotyping | 21 |
| nssv15640358 | copy number gain | 14-0152-001 | SNP array | Genotyping | 22 |
| nssv15657201 | copy number gain | 3-0289-000 | SNP array | Genotyping | 25 |
| nssv15672711 | copy number gain | 7-0336-001 | SNP array | Genotyping | 22 |
| nssv15672731 | copy number gain | 7-0336-003 | SNP array | Genotyping | 16 |
| nssv15672750 | copy number gain | 7-0336-004 | SNP array | Genotyping | 21 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15611790 | Remapped | Good | NT_187663.1:g.(?_8 37577)_(904496_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 837,577 | 904,496 |
| nssv15613137 | Remapped | Good | NT_187663.1:g.(?_8 37577)_(904496_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 837,577 | 904,496 |
| nssv15616493 | Remapped | Good | NT_187663.1:g.(?_8 37577)_(904496_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 837,577 | 904,496 |
| nssv15625171 | Remapped | Good | NT_187663.1:g.(?_8 37577)_(904496_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 837,577 | 904,496 |
| nssv15626145 | Remapped | Good | NT_187663.1:g.(?_8 37577)_(904496_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 837,577 | 904,496 |
| nssv15626672 | Remapped | Good | NT_187663.1:g.(?_8 37577)_(904496_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 837,577 | 904,496 |
| nssv15632962 | Remapped | Good | NT_187663.1:g.(?_8 37577)_(904496_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 837,577 | 904,496 |
| nssv15640358 | Remapped | Good | NT_187663.1:g.(?_8 37577)_(904496_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 837,577 | 904,496 |
| nssv15657201 | Remapped | Good | NT_187663.1:g.(?_8 37577)_(904496_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 837,577 | 904,496 |
| nssv15672711 | Remapped | Good | NT_187663.1:g.(?_8 37577)_(904496_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 837,577 | 904,496 |
| nssv15672731 | Remapped | Good | NT_187663.1:g.(?_8 37577)_(904496_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 837,577 | 904,496 |
| nssv15672750 | Remapped | Good | NT_187663.1:g.(?_8 37577)_(904496_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 837,577 | 904,496 |
| nssv15611790 | Remapped | Perfect | NC_000017.11:g.(?_ 46135470)_(4620239 4_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,135,470 | 46,202,394 |
| nssv15613137 | Remapped | Perfect | NC_000017.11:g.(?_ 46135470)_(4620239 4_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,135,470 | 46,202,394 |
| nssv15616493 | Remapped | Perfect | NC_000017.11:g.(?_ 46135470)_(4620239 4_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,135,470 | 46,202,394 |
| nssv15625171 | Remapped | Perfect | NC_000017.11:g.(?_ 46135470)_(4620239 4_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,135,470 | 46,202,394 |
| nssv15626145 | Remapped | Perfect | NC_000017.11:g.(?_ 46135470)_(4620239 4_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,135,470 | 46,202,394 |
| nssv15626672 | Remapped | Perfect | NC_000017.11:g.(?_ 46135470)_(4620239 4_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,135,470 | 46,202,394 |
| nssv15632962 | Remapped | Perfect | NC_000017.11:g.(?_ 46135470)_(4620239 4_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,135,470 | 46,202,394 |
| nssv15640358 | Remapped | Perfect | NC_000017.11:g.(?_ 46135470)_(4620239 4_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,135,470 | 46,202,394 |
| nssv15657201 | Remapped | Perfect | NC_000017.11:g.(?_ 46135470)_(4620239 4_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,135,470 | 46,202,394 |
| nssv15672711 | Remapped | Perfect | NC_000017.11:g.(?_ 46135470)_(4620239 4_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,135,470 | 46,202,394 |
| nssv15672731 | Remapped | Perfect | NC_000017.11:g.(?_ 46135470)_(4620239 4_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,135,470 | 46,202,394 |
| nssv15672750 | Remapped | Perfect | NC_000017.11:g.(?_ 46135470)_(4620239 4_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,135,470 | 46,202,394 |
| nssv15611790 | Submitted genomic | NC_000017.10:g.(?_ 44212836)_(4427976 0_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,212,836 | 44,279,760 | ||
| nssv15613137 | Submitted genomic | NC_000017.10:g.(?_ 44212836)_(4427976 0_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,212,836 | 44,279,760 | ||
| nssv15616493 | Submitted genomic | NC_000017.10:g.(?_ 44212836)_(4427976 0_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,212,836 | 44,279,760 | ||
| nssv15625171 | Submitted genomic | NC_000017.10:g.(?_ 44212836)_(4427976 0_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,212,836 | 44,279,760 | ||
| nssv15626145 | Submitted genomic | NC_000017.10:g.(?_ 44212836)_(4427976 0_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,212,836 | 44,279,760 | ||
| nssv15626672 | Submitted genomic | NC_000017.10:g.(?_ 44212836)_(4427976 0_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,212,836 | 44,279,760 | ||
| nssv15632962 | Submitted genomic | NC_000017.10:g.(?_ 44212836)_(4427976 0_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,212,836 | 44,279,760 | ||
| nssv15640358 | Submitted genomic | NC_000017.10:g.(?_ 44212836)_(4427976 0_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,212,836 | 44,279,760 | ||
| nssv15657201 | Submitted genomic | NC_000017.10:g.(?_ 44212836)_(4427976 0_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,212,836 | 44,279,760 | ||
| nssv15672711 | Submitted genomic | NC_000017.10:g.(?_ 44212836)_(4427976 0_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,212,836 | 44,279,760 | ||
| nssv15672731 | Submitted genomic | NC_000017.10:g.(?_ 44212836)_(4427976 0_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,212,836 | 44,279,760 | ||
| nssv15672750 | Submitted genomic | NC_000017.10:g.(?_ 44212836)_(4427976 0_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,212,836 | 44,279,760 |