nsv6625024
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:27
- Validation:Not tested
- Clinical Assertions: No
- Region Size:36,866
- 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: 697 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 697 SVs from 64 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6625024 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 474,588 | 511,453 |
| nsv6625024 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 474,588 | 511,453 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18284536 | duplication | OSC2619 | SNP array | Probe signal intensity | 9 |
| nssv18284542 | duplication | OSC2628 | SNP array | Probe signal intensity | 6 |
| nssv18284907 | duplication | OSC2622 | SNP array | Probe signal intensity | 6 |
| nssv18285625 | duplication | OSC2738 | SNP array | Probe signal intensity | 5 |
| nssv18286640 | duplication | OSC2967 | SNP array | Probe signal intensity | nssv18287545, nssv18287210, nssv18287544 |
| nssv18287079 | duplication | OSC3113 | SNP array | Probe signal intensity | 9 |
| nssv18288881 | duplication | OSC3257 | SNP array | Probe signal intensity | 6 |
| nssv18289315 | duplication | OSC0034 | SNP array | Probe signal intensity | 9 |
| nssv18289573 | duplication | OSC3561 | SNP array | Probe signal intensity | 9 |
| nssv18290404 | duplication | OSC3658 | SNP array | Probe signal intensity | 9 |
| nssv18290459 | duplication | OSC3705 | SNP array | Probe signal intensity | 6 |
| nssv18291316 | duplication | OSC3677 | SNP array | Probe signal intensity | nssv18290425 |
| nssv18291603 | duplication | OSC3860 | SNP array | Probe signal intensity | 6 |
| nssv18292238 | duplication | OSC0400 | SNP array | Probe signal intensity | 5 |
| nssv18293358 | duplication | OSC4029 | SNP array | Probe signal intensity | 5 |
| nssv18295409 | duplication | OSC4589 | SNP array | Probe signal intensity | 7 |
| nssv18296554 | duplication | OSC4761 | SNP array | Probe signal intensity | 7 |
| nssv18301806 | duplication | OSC0593 | SNP array | Probe signal intensity | |
| nssv18304947 | duplication | OSC0062 | SNP array | Probe signal intensity | 7 |
| nssv18306759 | duplication | OSC0005 | SNP array | Probe signal intensity | 12 |
| nssv18314669 | duplication | OSC0824 | SNP array | Probe signal intensity | 7 |
| nssv18321145 | duplication | OSC1180 | SNP array | Probe signal intensity | nssv18321144, nssv18321146 |
| nssv18323730 | duplication | OSC1716 | SNP array | Probe signal intensity | 11 |
| nssv18323991 | duplication | OSC1638 | SNP array | Probe signal intensity | 9 |
| nssv18324505 | duplication | OSC0166 | SNP array | Probe signal intensity | nssv18324510, nssv18324506, nssv18324220 |
| nssv18325688 | duplication | OSC1793 | SNP array | Probe signal intensity | nssv18325133 |
| nssv18325852 | duplication | OSC1908 | SNP array | Probe signal intensity | 6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18284536 | Remapped | Perfect | NC_000019.10:g.(?_ 474588)_(511453_?) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 474,588 | 511,453 |
| nssv18284542 | Remapped | Perfect | NC_000019.10:g.(?_ 474588)_(511453_?) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 474,588 | 511,453 |
| nssv18284907 | Remapped | Perfect | NC_000019.10:g.(?_ 474588)_(511453_?) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 474,588 | 511,453 |
| nssv18285625 | Remapped | Perfect | NC_000019.10:g.(?_ 474588)_(511453_?) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 474,588 | 511,453 |
| nssv18286640 | Remapped | Perfect | NC_000019.10:g.(?_ 474588)_(511453_?) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 474,588 | 511,453 |
| nssv18287079 | Remapped | Perfect | NC_000019.10:g.(?_ 474588)_(511453_?) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 474,588 | 511,453 |
| nssv18288881 | Remapped | Perfect | NC_000019.10:g.(?_ 474588)_(511453_?) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 474,588 | 511,453 |
| nssv18289315 | Remapped | Perfect | NC_000019.10:g.(?_ 474588)_(511453_?) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 474,588 | 511,453 |
| nssv18289573 | Remapped | Perfect | NC_000019.10:g.(?_ 474588)_(511453_?) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 474,588 | 511,453 |
| nssv18290404 | Remapped | Perfect | NC_000019.10:g.(?_ 474588)_(511453_?) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 474,588 | 511,453 |
| nssv18290459 | Remapped | Perfect | NC_000019.10:g.(?_ 474588)_(511453_?) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 474,588 | 511,453 |
| nssv18291316 | Remapped | Perfect | NC_000019.10:g.(?_ 474588)_(511453_?) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 474,588 | 511,453 |
| nssv18291603 | Remapped | Perfect | NC_000019.10:g.(?_ 474588)_(511453_?) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 474,588 | 511,453 |
| nssv18292238 | Remapped | Perfect | NC_000019.10:g.(?_ 474588)_(511453_?) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 474,588 | 511,453 |
| nssv18293358 | Remapped | Perfect | NC_000019.10:g.(?_ 474588)_(511453_?) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 474,588 | 511,453 |
| nssv18295409 | Remapped | Perfect | NC_000019.10:g.(?_ 474588)_(511453_?) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 474,588 | 511,453 |
| nssv18296554 | Remapped | Perfect | NC_000019.10:g.(?_ 474588)_(511453_?) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 474,588 | 511,453 |
| nssv18301806 | Remapped | Perfect | NC_000019.10:g.(?_ 474588)_(511453_?) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 474,588 | 511,453 |
| nssv18304947 | Remapped | Perfect | NC_000019.10:g.(?_ 474588)_(511453_?) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 474,588 | 511,453 |
| nssv18306759 | Remapped | Perfect | NC_000019.10:g.(?_ 474588)_(511453_?) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 474,588 | 511,453 |
| nssv18314669 | Remapped | Perfect | NC_000019.10:g.(?_ 474588)_(511453_?) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 474,588 | 511,453 |
| nssv18321145 | Remapped | Perfect | NC_000019.10:g.(?_ 474588)_(511453_?) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 474,588 | 511,453 |
| nssv18323730 | Remapped | Perfect | NC_000019.10:g.(?_ 474588)_(511453_?) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 474,588 | 511,453 |
| nssv18323991 | Remapped | Perfect | NC_000019.10:g.(?_ 474588)_(511453_?) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 474,588 | 511,453 |
| nssv18324505 | Remapped | Perfect | NC_000019.10:g.(?_ 474588)_(511453_?) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 474,588 | 511,453 |
| nssv18325688 | Remapped | Perfect | NC_000019.10:g.(?_ 474588)_(511453_?) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 474,588 | 511,453 |
| nssv18325852 | Remapped | Perfect | NC_000019.10:g.(?_ 474588)_(511453_?) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 474,588 | 511,453 |
| nssv18284536 | Submitted genomic | NC_000019.9:g.(?_4 74588)_(511453_?)d up | GRCh37 (hg19) | NC_000019.9 | Chr19 | 474,588 | 511,453 | ||
| nssv18284542 | Submitted genomic | NC_000019.9:g.(?_4 74588)_(511453_?)d up | GRCh37 (hg19) | NC_000019.9 | Chr19 | 474,588 | 511,453 | ||
| nssv18284907 | Submitted genomic | NC_000019.9:g.(?_4 74588)_(511453_?)d up | GRCh37 (hg19) | NC_000019.9 | Chr19 | 474,588 | 511,453 | ||
| nssv18285625 | Submitted genomic | NC_000019.9:g.(?_4 74588)_(511453_?)d up | GRCh37 (hg19) | NC_000019.9 | Chr19 | 474,588 | 511,453 | ||
| nssv18286640 | Submitted genomic | NC_000019.9:g.(?_4 74588)_(511453_?)d up | GRCh37 (hg19) | NC_000019.9 | Chr19 | 474,588 | 511,453 | ||
| nssv18287079 | Submitted genomic | NC_000019.9:g.(?_4 74588)_(511453_?)d up | GRCh37 (hg19) | NC_000019.9 | Chr19 | 474,588 | 511,453 | ||
| nssv18288881 | Submitted genomic | NC_000019.9:g.(?_4 74588)_(511453_?)d up | GRCh37 (hg19) | NC_000019.9 | Chr19 | 474,588 | 511,453 | ||
| nssv18289315 | Submitted genomic | NC_000019.9:g.(?_4 74588)_(511453_?)d up | GRCh37 (hg19) | NC_000019.9 | Chr19 | 474,588 | 511,453 | ||
| nssv18289573 | Submitted genomic | NC_000019.9:g.(?_4 74588)_(511453_?)d up | GRCh37 (hg19) | NC_000019.9 | Chr19 | 474,588 | 511,453 | ||
| nssv18290404 | Submitted genomic | NC_000019.9:g.(?_4 74588)_(511453_?)d up | GRCh37 (hg19) | NC_000019.9 | Chr19 | 474,588 | 511,453 | ||
| nssv18290459 | Submitted genomic | NC_000019.9:g.(?_4 74588)_(511453_?)d up | GRCh37 (hg19) | NC_000019.9 | Chr19 | 474,588 | 511,453 | ||
| nssv18291316 | Submitted genomic | NC_000019.9:g.(?_4 74588)_(511453_?)d up | GRCh37 (hg19) | NC_000019.9 | Chr19 | 474,588 | 511,453 | ||
| nssv18291603 | Submitted genomic | NC_000019.9:g.(?_4 74588)_(511453_?)d up | GRCh37 (hg19) | NC_000019.9 | Chr19 | 474,588 | 511,453 | ||
| nssv18292238 | Submitted genomic | NC_000019.9:g.(?_4 74588)_(511453_?)d up | GRCh37 (hg19) | NC_000019.9 | Chr19 | 474,588 | 511,453 | ||
| nssv18293358 | Submitted genomic | NC_000019.9:g.(?_4 74588)_(511453_?)d up | GRCh37 (hg19) | NC_000019.9 | Chr19 | 474,588 | 511,453 | ||
| nssv18295409 | Submitted genomic | NC_000019.9:g.(?_4 74588)_(511453_?)d up | GRCh37 (hg19) | NC_000019.9 | Chr19 | 474,588 | 511,453 | ||
| nssv18296554 | Submitted genomic | NC_000019.9:g.(?_4 74588)_(511453_?)d up | GRCh37 (hg19) | NC_000019.9 | Chr19 | 474,588 | 511,453 | ||
| nssv18301806 | Submitted genomic | NC_000019.9:g.(?_4 74588)_(511453_?)d up | GRCh37 (hg19) | NC_000019.9 | Chr19 | 474,588 | 511,453 | ||
| nssv18304947 | Submitted genomic | NC_000019.9:g.(?_4 74588)_(511453_?)d up | GRCh37 (hg19) | NC_000019.9 | Chr19 | 474,588 | 511,453 | ||
| nssv18306759 | Submitted genomic | NC_000019.9:g.(?_4 74588)_(511453_?)d up | GRCh37 (hg19) | NC_000019.9 | Chr19 | 474,588 | 511,453 | ||
| nssv18314669 | Submitted genomic | NC_000019.9:g.(?_4 74588)_(511453_?)d up | GRCh37 (hg19) | NC_000019.9 | Chr19 | 474,588 | 511,453 | ||
| nssv18321145 | Submitted genomic | NC_000019.9:g.(?_4 74588)_(511453_?)d up | GRCh37 (hg19) | NC_000019.9 | Chr19 | 474,588 | 511,453 | ||
| nssv18323730 | Submitted genomic | NC_000019.9:g.(?_4 74588)_(511453_?)d up | GRCh37 (hg19) | NC_000019.9 | Chr19 | 474,588 | 511,453 | ||
| nssv18323991 | Submitted genomic | NC_000019.9:g.(?_4 74588)_(511453_?)d up | GRCh37 (hg19) | NC_000019.9 | Chr19 | 474,588 | 511,453 | ||
| nssv18324505 | Submitted genomic | NC_000019.9:g.(?_4 74588)_(511453_?)d up | GRCh37 (hg19) | NC_000019.9 | Chr19 | 474,588 | 511,453 | ||
| nssv18325688 | Submitted genomic | NC_000019.9:g.(?_4 74588)_(511453_?)d up | GRCh37 (hg19) | NC_000019.9 | Chr19 | 474,588 | 511,453 | ||
| nssv18325852 | Submitted genomic | NC_000019.9:g.(?_4 74588)_(511453_?)d up | GRCh37 (hg19) | NC_000019.9 | Chr19 | 474,588 | 511,453 |