nsv6630433
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:28
- Validation:Not tested
- Clinical Assertions: No
- Region Size:85,305
- Publication(s):Zarrei et al. 2023
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: 2143 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 2143 SVs from 102 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6630433 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 700,445 | 785,749 |
| nsv6630433 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 700,560 | 785,864 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18303061 | deletion | OSC6000 | SNP array | Probe signal intensity | 11 |
| nssv18304034 | duplication | OSC6216 | SNP array | Probe signal intensity | 10 |
| nssv18304725 | deletion | OSC6078 | SNP array | Probe signal intensity | 9 |
| nssv18304992 | duplication | OSC6262 | SNP array | Probe signal intensity | 10 |
| nssv18305157 | duplication | OSC6361 | SNP array | Probe signal intensity | 11 |
| nssv18305396 | deletion | OSC6358 | SNP array | Probe signal intensity | 8 |
| nssv18307592 | deletion | OSC6759 | SNP array | Probe signal intensity | 9 |
| nssv18307891 | duplication | OSC6807 | SNP array | Probe signal intensity | 7 |
| nssv18308284 | deletion | OSC6839 | SNP array | Probe signal intensity | 7 |
| nssv18308732 | duplication | OSC6903 | SNP array | Probe signal intensity | 6 |
| nssv18310300 | duplication | OSC7164 | SNP array | Probe signal intensity | 11 |
| nssv18310699 | duplication | OSC7224 | SNP array | Probe signal intensity | 11 |
| nssv18312325 | deletion | OSC7517 | SNP array | Probe signal intensity | 7 |
| nssv18312512 | duplication | OSC7671 | SNP array | Probe signal intensity | 6 |
| nssv18313786 | deletion | OSC7918 | SNP array | Probe signal intensity | 9 |
| nssv18315842 | duplication | OSC8067 | SNP array | Probe signal intensity | 7 |
| nssv18315860 | deletion | OSC8076 | SNP array | Probe signal intensity | nssv18315859, nssv18315858, nssv18315857 |
| nssv18316010 | duplication | OSC8189 | SNP array | Probe signal intensity | 11 |
| nssv18316027 | deletion | OSC8203 | SNP array | Probe signal intensity | 7 |
| nssv18316301 | duplication | OSC8330 | SNP array | Probe signal intensity | 9 |
| nssv18316336 | deletion | OSC8354 | SNP array | Probe signal intensity | 10 |
| nssv18316451 | duplication | OSC8185 | SNP array | Probe signal intensity | 11 |
| nssv18316894 | duplication | OSC8309 | SNP array | Probe signal intensity | 13 |
| nssv18317570 | deletion | OSC8570 | SNP array | Probe signal intensity | 11 |
| nssv18318079 | duplication | OSC8476 | SNP array | Probe signal intensity | 12 |
| nssv18318963 | duplication | OSC8638 | SNP array | Probe signal intensity | 14 |
| nssv18319572 | duplication | OSC8687 | SNP array | Probe signal intensity | 8 |
| nssv18320754 | duplication | OSC8843 | SNP array | Probe signal intensity | 8 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18303061 | Remapped | Perfect | NC_000005.10:g.(?_ 700445)_(785749_?) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 700,445 | 785,749 |
| nssv18304034 | Remapped | Perfect | NC_000005.10:g.(?_ 700445)_(785749_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 700,445 | 785,749 |
| nssv18304725 | Remapped | Perfect | NC_000005.10:g.(?_ 700445)_(785749_?) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 700,445 | 785,749 |
| nssv18304992 | Remapped | Perfect | NC_000005.10:g.(?_ 700445)_(785749_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 700,445 | 785,749 |
| nssv18305157 | Remapped | Perfect | NC_000005.10:g.(?_ 700445)_(785749_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 700,445 | 785,749 |
| nssv18305396 | Remapped | Perfect | NC_000005.10:g.(?_ 700445)_(785749_?) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 700,445 | 785,749 |
| nssv18307592 | Remapped | Perfect | NC_000005.10:g.(?_ 700445)_(785749_?) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 700,445 | 785,749 |
| nssv18307891 | Remapped | Perfect | NC_000005.10:g.(?_ 700445)_(785749_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 700,445 | 785,749 |
| nssv18308284 | Remapped | Perfect | NC_000005.10:g.(?_ 700445)_(785749_?) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 700,445 | 785,749 |
| nssv18308732 | Remapped | Perfect | NC_000005.10:g.(?_ 700445)_(785749_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 700,445 | 785,749 |
| nssv18310300 | Remapped | Perfect | NC_000005.10:g.(?_ 700445)_(785749_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 700,445 | 785,749 |
| nssv18310699 | Remapped | Perfect | NC_000005.10:g.(?_ 700445)_(785749_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 700,445 | 785,749 |
| nssv18312325 | Remapped | Perfect | NC_000005.10:g.(?_ 700445)_(785749_?) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 700,445 | 785,749 |
| nssv18312512 | Remapped | Perfect | NC_000005.10:g.(?_ 700445)_(785749_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 700,445 | 785,749 |
| nssv18313786 | Remapped | Perfect | NC_000005.10:g.(?_ 700445)_(785749_?) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 700,445 | 785,749 |
| nssv18315842 | Remapped | Perfect | NC_000005.10:g.(?_ 700445)_(785749_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 700,445 | 785,749 |
| nssv18315860 | Remapped | Perfect | NC_000005.10:g.(?_ 700445)_(785749_?) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 700,445 | 785,749 |
| nssv18316010 | Remapped | Perfect | NC_000005.10:g.(?_ 700445)_(785749_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 700,445 | 785,749 |
| nssv18316027 | Remapped | Perfect | NC_000005.10:g.(?_ 700445)_(785749_?) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 700,445 | 785,749 |
| nssv18316301 | Remapped | Perfect | NC_000005.10:g.(?_ 700445)_(785749_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 700,445 | 785,749 |
| nssv18316336 | Remapped | Perfect | NC_000005.10:g.(?_ 700445)_(785749_?) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 700,445 | 785,749 |
| nssv18316451 | Remapped | Perfect | NC_000005.10:g.(?_ 700445)_(785749_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 700,445 | 785,749 |
| nssv18316894 | Remapped | Perfect | NC_000005.10:g.(?_ 700445)_(785749_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 700,445 | 785,749 |
| nssv18317570 | Remapped | Perfect | NC_000005.10:g.(?_ 700445)_(785749_?) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 700,445 | 785,749 |
| nssv18318079 | Remapped | Perfect | NC_000005.10:g.(?_ 700445)_(785749_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 700,445 | 785,749 |
| nssv18318963 | Remapped | Perfect | NC_000005.10:g.(?_ 700445)_(785749_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 700,445 | 785,749 |
| nssv18319572 | Remapped | Perfect | NC_000005.10:g.(?_ 700445)_(785749_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 700,445 | 785,749 |
| nssv18320754 | Remapped | Perfect | NC_000005.10:g.(?_ 700445)_(785749_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 700,445 | 785,749 |
| nssv18303061 | Submitted genomic | NC_000005.9:g.(?_7 00560)_(785864_?)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 700,560 | 785,864 | ||
| nssv18304034 | Submitted genomic | NC_000005.9:g.(?_7 00560)_(785864_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 700,560 | 785,864 | ||
| nssv18304725 | Submitted genomic | NC_000005.9:g.(?_7 00560)_(785864_?)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 700,560 | 785,864 | ||
| nssv18304992 | Submitted genomic | NC_000005.9:g.(?_7 00560)_(785864_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 700,560 | 785,864 | ||
| nssv18305157 | Submitted genomic | NC_000005.9:g.(?_7 00560)_(785864_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 700,560 | 785,864 | ||
| nssv18305396 | Submitted genomic | NC_000005.9:g.(?_7 00560)_(785864_?)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 700,560 | 785,864 | ||
| nssv18307592 | Submitted genomic | NC_000005.9:g.(?_7 00560)_(785864_?)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 700,560 | 785,864 | ||
| nssv18307891 | Submitted genomic | NC_000005.9:g.(?_7 00560)_(785864_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 700,560 | 785,864 | ||
| nssv18308284 | Submitted genomic | NC_000005.9:g.(?_7 00560)_(785864_?)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 700,560 | 785,864 | ||
| nssv18308732 | Submitted genomic | NC_000005.9:g.(?_7 00560)_(785864_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 700,560 | 785,864 | ||
| nssv18310300 | Submitted genomic | NC_000005.9:g.(?_7 00560)_(785864_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 700,560 | 785,864 | ||
| nssv18310699 | Submitted genomic | NC_000005.9:g.(?_7 00560)_(785864_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 700,560 | 785,864 | ||
| nssv18312325 | Submitted genomic | NC_000005.9:g.(?_7 00560)_(785864_?)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 700,560 | 785,864 | ||
| nssv18312512 | Submitted genomic | NC_000005.9:g.(?_7 00560)_(785864_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 700,560 | 785,864 | ||
| nssv18313786 | Submitted genomic | NC_000005.9:g.(?_7 00560)_(785864_?)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 700,560 | 785,864 | ||
| nssv18315842 | Submitted genomic | NC_000005.9:g.(?_7 00560)_(785864_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 700,560 | 785,864 | ||
| nssv18315860 | Submitted genomic | NC_000005.9:g.(?_7 00560)_(785864_?)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 700,560 | 785,864 | ||
| nssv18316010 | Submitted genomic | NC_000005.9:g.(?_7 00560)_(785864_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 700,560 | 785,864 | ||
| nssv18316027 | Submitted genomic | NC_000005.9:g.(?_7 00560)_(785864_?)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 700,560 | 785,864 | ||
| nssv18316301 | Submitted genomic | NC_000005.9:g.(?_7 00560)_(785864_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 700,560 | 785,864 | ||
| nssv18316336 | Submitted genomic | NC_000005.9:g.(?_7 00560)_(785864_?)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 700,560 | 785,864 | ||
| nssv18316451 | Submitted genomic | NC_000005.9:g.(?_7 00560)_(785864_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 700,560 | 785,864 | ||
| nssv18316894 | Submitted genomic | NC_000005.9:g.(?_7 00560)_(785864_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 700,560 | 785,864 | ||
| nssv18317570 | Submitted genomic | NC_000005.9:g.(?_7 00560)_(785864_?)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 700,560 | 785,864 | ||
| nssv18318079 | Submitted genomic | NC_000005.9:g.(?_7 00560)_(785864_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 700,560 | 785,864 | ||
| nssv18318963 | Submitted genomic | NC_000005.9:g.(?_7 00560)_(785864_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 700,560 | 785,864 | ||
| nssv18319572 | Submitted genomic | NC_000005.9:g.(?_7 00560)_(785864_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 700,560 | 785,864 | ||
| nssv18320754 | Submitted genomic | NC_000005.9:g.(?_7 00560)_(785864_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 700,560 | 785,864 |