nsv4387464
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:23
- Validation:Not tested
- Clinical Assertions: No
- Region Size:51,251
- 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: 1122 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 876 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 1122 SVs from 88 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4387464 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 31,202,939 | 31,254,189 |
| nsv4387464 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 93,733 | 144,983 |
| nsv4387464 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 31,355,873 | 31,407,123 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15617511 | copy number gain | 1-0153-001 | SNP array | Genotyping | 21 |
| nssv15619045 | copy number gain | 1-0912-004 | SNP array | Genotyping | 15 |
| nssv15630167 | copy number gain | 1-0555-001 | SNP array | Genotyping | 14 |
| nssv15631689 | copy number gain | 10-0013-003 | SNP array | Genotyping | 26 |
| nssv15631989 | copy number gain | 1-1063-003 | SNP array | Genotyping | 30 |
| nssv15633870 | copy number gain | 10-1149-003 | SNP array | Genotyping | 17 |
| nssv15646540 | copy number gain | 2-1268-002 | SNP array | Genotyping | 29 |
| nssv15650911 | copy number gain | 2-1425-004 | SNP array | Genotyping | 20 |
| nssv15653007 | copy number gain | 2-1583-003 | SNP array | Genotyping | 27 |
| nssv15654880 | copy number gain | 3-0523-000 | SNP array | Genotyping | 18 |
| nssv15655051 | copy number gain | 2-1647-003 | SNP array | Genotyping | 26 |
| nssv15656054 | copy number gain | 3-0607-000 | SNP array | Genotyping | 26 |
| nssv15656609 | copy number gain | 3-0027-100 | SNP array | Genotyping | 14 |
| nssv15657379 | copy number gain | 3-0490-000 | SNP array | Genotyping | 24 |
| nssv15657873 | copy number gain | 3-0406-001 | SNP array | Genotyping | 17 |
| nssv15665887 | copy number gain | 7-0101-003 | SNP array | Genotyping | 18 |
| nssv15666785 | copy number gain | 7-0111-003 | SNP array | Genotyping | 23 |
| nssv15667090 | copy number gain | 7-0118-003 | SNP array | Genotyping | 21 |
| nssv15672653 | copy number gain | 9-0012-001 | SNP array | Genotyping | 23 |
| nssv15674309 | copy number gain | 9-0033-003 | SNP array | Genotyping | 17 |
| nssv15688162 | copy number gain | 209349 | SNP array | Genotyping | 17 |
| nssv15695249 | copy number gain | 158189 | SNP array | Genotyping | 26 |
| nssv15697576 | copy number gain | 231160 | SNP array | Genotyping | 13 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15617511 | Remapped | Perfect | NT_187587.1:g.(?_9 3733)_(144983_?)du p | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 93,733 | 144,983 |
| nssv15619045 | Remapped | Perfect | NT_187587.1:g.(?_9 3733)_(144983_?)du p | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 93,733 | 144,983 |
| nssv15630167 | Remapped | Perfect | NT_187587.1:g.(?_9 3733)_(144983_?)du p | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 93,733 | 144,983 |
| nssv15631689 | Remapped | Perfect | NT_187587.1:g.(?_9 3733)_(144983_?)du p | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 93,733 | 144,983 |
| nssv15631989 | Remapped | Perfect | NT_187587.1:g.(?_9 3733)_(144983_?)du p | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 93,733 | 144,983 |
| nssv15633870 | Remapped | Perfect | NT_187587.1:g.(?_9 3733)_(144983_?)du p | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 93,733 | 144,983 |
| nssv15646540 | Remapped | Perfect | NT_187587.1:g.(?_9 3733)_(144983_?)du p | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 93,733 | 144,983 |
| nssv15650911 | Remapped | Perfect | NT_187587.1:g.(?_9 3733)_(144983_?)du p | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 93,733 | 144,983 |
| nssv15653007 | Remapped | Perfect | NT_187587.1:g.(?_9 3733)_(144983_?)du p | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 93,733 | 144,983 |
| nssv15654880 | Remapped | Perfect | NT_187587.1:g.(?_9 3733)_(144983_?)du p | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 93,733 | 144,983 |
| nssv15655051 | Remapped | Perfect | NT_187587.1:g.(?_9 3733)_(144983_?)du p | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 93,733 | 144,983 |
| nssv15656054 | Remapped | Perfect | NT_187587.1:g.(?_9 3733)_(144983_?)du p | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 93,733 | 144,983 |
| nssv15656609 | Remapped | Perfect | NT_187587.1:g.(?_9 3733)_(144983_?)du p | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 93,733 | 144,983 |
| nssv15657379 | Remapped | Perfect | NT_187587.1:g.(?_9 3733)_(144983_?)du p | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 93,733 | 144,983 |
| nssv15657873 | Remapped | Perfect | NT_187587.1:g.(?_9 3733)_(144983_?)du p | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 93,733 | 144,983 |
| nssv15665887 | Remapped | Perfect | NT_187587.1:g.(?_9 3733)_(144983_?)du p | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 93,733 | 144,983 |
| nssv15666785 | Remapped | Perfect | NT_187587.1:g.(?_9 3733)_(144983_?)du p | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 93,733 | 144,983 |
| nssv15667090 | Remapped | Perfect | NT_187587.1:g.(?_9 3733)_(144983_?)du p | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 93,733 | 144,983 |
| nssv15672653 | Remapped | Perfect | NT_187587.1:g.(?_9 3733)_(144983_?)du p | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 93,733 | 144,983 |
| nssv15674309 | Remapped | Perfect | NT_187587.1:g.(?_9 3733)_(144983_?)du p | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 93,733 | 144,983 |
| nssv15688162 | Remapped | Perfect | NT_187587.1:g.(?_9 3733)_(144983_?)du p | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 93,733 | 144,983 |
| nssv15695249 | Remapped | Perfect | NT_187587.1:g.(?_9 3733)_(144983_?)du p | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 93,733 | 144,983 |
| nssv15697576 | Remapped | Perfect | NT_187587.1:g.(?_9 3733)_(144983_?)du p | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 93,733 | 144,983 |
| nssv15617511 | Remapped | Perfect | NC_000012.12:g.(?_ 31202939)_(3125418 9_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,202,939 | 31,254,189 |
| nssv15619045 | Remapped | Perfect | NC_000012.12:g.(?_ 31202939)_(3125418 9_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,202,939 | 31,254,189 |
| nssv15630167 | Remapped | Perfect | NC_000012.12:g.(?_ 31202939)_(3125418 9_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,202,939 | 31,254,189 |
| nssv15631689 | Remapped | Perfect | NC_000012.12:g.(?_ 31202939)_(3125418 9_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,202,939 | 31,254,189 |
| nssv15631989 | Remapped | Perfect | NC_000012.12:g.(?_ 31202939)_(3125418 9_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,202,939 | 31,254,189 |
| nssv15633870 | Remapped | Perfect | NC_000012.12:g.(?_ 31202939)_(3125418 9_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,202,939 | 31,254,189 |
| nssv15646540 | Remapped | Perfect | NC_000012.12:g.(?_ 31202939)_(3125418 9_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,202,939 | 31,254,189 |
| nssv15650911 | Remapped | Perfect | NC_000012.12:g.(?_ 31202939)_(3125418 9_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,202,939 | 31,254,189 |
| nssv15653007 | Remapped | Perfect | NC_000012.12:g.(?_ 31202939)_(3125418 9_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,202,939 | 31,254,189 |
| nssv15654880 | Remapped | Perfect | NC_000012.12:g.(?_ 31202939)_(3125418 9_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,202,939 | 31,254,189 |
| nssv15655051 | Remapped | Perfect | NC_000012.12:g.(?_ 31202939)_(3125418 9_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,202,939 | 31,254,189 |
| nssv15656054 | Remapped | Perfect | NC_000012.12:g.(?_ 31202939)_(3125418 9_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,202,939 | 31,254,189 |
| nssv15656609 | Remapped | Perfect | NC_000012.12:g.(?_ 31202939)_(3125418 9_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,202,939 | 31,254,189 |
| nssv15657379 | Remapped | Perfect | NC_000012.12:g.(?_ 31202939)_(3125418 9_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,202,939 | 31,254,189 |
| nssv15657873 | Remapped | Perfect | NC_000012.12:g.(?_ 31202939)_(3125418 9_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,202,939 | 31,254,189 |
| nssv15665887 | Remapped | Perfect | NC_000012.12:g.(?_ 31202939)_(3125418 9_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,202,939 | 31,254,189 |
| nssv15666785 | Remapped | Perfect | NC_000012.12:g.(?_ 31202939)_(3125418 9_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,202,939 | 31,254,189 |
| nssv15667090 | Remapped | Perfect | NC_000012.12:g.(?_ 31202939)_(3125418 9_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,202,939 | 31,254,189 |
| nssv15672653 | Remapped | Perfect | NC_000012.12:g.(?_ 31202939)_(3125418 9_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,202,939 | 31,254,189 |
| nssv15674309 | Remapped | Perfect | NC_000012.12:g.(?_ 31202939)_(3125418 9_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,202,939 | 31,254,189 |
| nssv15688162 | Remapped | Perfect | NC_000012.12:g.(?_ 31202939)_(3125418 9_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,202,939 | 31,254,189 |
| nssv15695249 | Remapped | Perfect | NC_000012.12:g.(?_ 31202939)_(3125418 9_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,202,939 | 31,254,189 |
| nssv15697576 | Remapped | Perfect | NC_000012.12:g.(?_ 31202939)_(3125418 9_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,202,939 | 31,254,189 |
| nssv15617511 | Submitted genomic | NC_000012.11:g.(?_ 31355873)_(3140712 3_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,355,873 | 31,407,123 | ||
| nssv15619045 | Submitted genomic | NC_000012.11:g.(?_ 31355873)_(3140712 3_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,355,873 | 31,407,123 | ||
| nssv15630167 | Submitted genomic | NC_000012.11:g.(?_ 31355873)_(3140712 3_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,355,873 | 31,407,123 | ||
| nssv15631689 | Submitted genomic | NC_000012.11:g.(?_ 31355873)_(3140712 3_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,355,873 | 31,407,123 | ||
| nssv15631989 | Submitted genomic | NC_000012.11:g.(?_ 31355873)_(3140712 3_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,355,873 | 31,407,123 | ||
| nssv15633870 | Submitted genomic | NC_000012.11:g.(?_ 31355873)_(3140712 3_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,355,873 | 31,407,123 | ||
| nssv15646540 | Submitted genomic | NC_000012.11:g.(?_ 31355873)_(3140712 3_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,355,873 | 31,407,123 | ||
| nssv15650911 | Submitted genomic | NC_000012.11:g.(?_ 31355873)_(3140712 3_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,355,873 | 31,407,123 | ||
| nssv15653007 | Submitted genomic | NC_000012.11:g.(?_ 31355873)_(3140712 3_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,355,873 | 31,407,123 | ||
| nssv15654880 | Submitted genomic | NC_000012.11:g.(?_ 31355873)_(3140712 3_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,355,873 | 31,407,123 | ||
| nssv15655051 | Submitted genomic | NC_000012.11:g.(?_ 31355873)_(3140712 3_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,355,873 | 31,407,123 | ||
| nssv15656054 | Submitted genomic | NC_000012.11:g.(?_ 31355873)_(3140712 3_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,355,873 | 31,407,123 | ||
| nssv15656609 | Submitted genomic | NC_000012.11:g.(?_ 31355873)_(3140712 3_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,355,873 | 31,407,123 | ||
| nssv15657379 | Submitted genomic | NC_000012.11:g.(?_ 31355873)_(3140712 3_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,355,873 | 31,407,123 | ||
| nssv15657873 | Submitted genomic | NC_000012.11:g.(?_ 31355873)_(3140712 3_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,355,873 | 31,407,123 | ||
| nssv15665887 | Submitted genomic | NC_000012.11:g.(?_ 31355873)_(3140712 3_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,355,873 | 31,407,123 | ||
| nssv15666785 | Submitted genomic | NC_000012.11:g.(?_ 31355873)_(3140712 3_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,355,873 | 31,407,123 | ||
| nssv15667090 | Submitted genomic | NC_000012.11:g.(?_ 31355873)_(3140712 3_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,355,873 | 31,407,123 | ||
| nssv15672653 | Submitted genomic | NC_000012.11:g.(?_ 31355873)_(3140712 3_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,355,873 | 31,407,123 | ||
| nssv15674309 | Submitted genomic | NC_000012.11:g.(?_ 31355873)_(3140712 3_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,355,873 | 31,407,123 | ||
| nssv15688162 | Submitted genomic | NC_000012.11:g.(?_ 31355873)_(3140712 3_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,355,873 | 31,407,123 | ||
| nssv15695249 | Submitted genomic | NC_000012.11:g.(?_ 31355873)_(3140712 3_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,355,873 | 31,407,123 | ||
| nssv15697576 | Submitted genomic | NC_000012.11:g.(?_ 31355873)_(3140712 3_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,355,873 | 31,407,123 |