nsv6628694
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:15
- Validation:Not tested
- Clinical Assertions: No
- Region Size:240,311
- 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: 869 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 869 SVs from 69 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6628694 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 142,126,158 | 142,366,468 |
| nsv6628694 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 141,845,000 | 142,085,310 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18281694 | duplication | OSC2091 | SNP array | Probe signal intensity | nssv18281693, nssv18281695, nssv18282331 |
| nssv18282063 | duplication | OSC2131 | SNP array | Probe signal intensity | 6 |
| nssv18287077 | duplication | OSC0031 | SNP array | Probe signal intensity | 5 |
| nssv18290360 | duplication | OSC3627 | SNP array | Probe signal intensity | 6 |
| nssv18291060 | duplication | OSC3717 | SNP array | Probe signal intensity | 6 |
| nssv18291369 | duplication | OSC3720 | SNP array | Probe signal intensity | nssv18290479, nssv18291068, nssv18291371 |
| nssv18291707 | duplication | OSC3931 | SNP array | Probe signal intensity | 10 |
| nssv18292694 | duplication | OSC3993 | SNP array | Probe signal intensity | 5 |
| nssv18294995 | duplication | OSC4310 | SNP array | Probe signal intensity | 6 |
| nssv18295624 | duplication | OSC4586 | SNP array | Probe signal intensity | 6 |
| nssv18297306 | duplication | OSC0504 | SNP array | Probe signal intensity | 8 |
| nssv18316224 | duplication | OSC0863 | SNP array | Probe signal intensity | 7 |
| nssv18321191 | duplication | OSC1210 | SNP array | Probe signal intensity | 10 |
| nssv18325579 | duplication | OSC1897 | SNP array | Probe signal intensity | 5 |
| nssv18325716 | duplication | OSC1812 | SNP array | Probe signal intensity | 13 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18281694 | Remapped | Perfect | NC_000003.12:g.(?_ 142126158)_(142366 468_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 142,126,158 | 142,366,468 |
| nssv18282063 | Remapped | Perfect | NC_000003.12:g.(?_ 142126158)_(142366 468_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 142,126,158 | 142,366,468 |
| nssv18287077 | Remapped | Perfect | NC_000003.12:g.(?_ 142126158)_(142366 468_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 142,126,158 | 142,366,468 |
| nssv18290360 | Remapped | Perfect | NC_000003.12:g.(?_ 142126158)_(142366 468_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 142,126,158 | 142,366,468 |
| nssv18291060 | Remapped | Perfect | NC_000003.12:g.(?_ 142126158)_(142366 468_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 142,126,158 | 142,366,468 |
| nssv18291369 | Remapped | Perfect | NC_000003.12:g.(?_ 142126158)_(142366 468_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 142,126,158 | 142,366,468 |
| nssv18291707 | Remapped | Perfect | NC_000003.12:g.(?_ 142126158)_(142366 468_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 142,126,158 | 142,366,468 |
| nssv18292694 | Remapped | Perfect | NC_000003.12:g.(?_ 142126158)_(142366 468_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 142,126,158 | 142,366,468 |
| nssv18294995 | Remapped | Perfect | NC_000003.12:g.(?_ 142126158)_(142366 468_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 142,126,158 | 142,366,468 |
| nssv18295624 | Remapped | Perfect | NC_000003.12:g.(?_ 142126158)_(142366 468_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 142,126,158 | 142,366,468 |
| nssv18297306 | Remapped | Perfect | NC_000003.12:g.(?_ 142126158)_(142366 468_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 142,126,158 | 142,366,468 |
| nssv18316224 | Remapped | Perfect | NC_000003.12:g.(?_ 142126158)_(142366 468_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 142,126,158 | 142,366,468 |
| nssv18321191 | Remapped | Perfect | NC_000003.12:g.(?_ 142126158)_(142366 468_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 142,126,158 | 142,366,468 |
| nssv18325579 | Remapped | Perfect | NC_000003.12:g.(?_ 142126158)_(142366 468_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 142,126,158 | 142,366,468 |
| nssv18325716 | Remapped | Perfect | NC_000003.12:g.(?_ 142126158)_(142366 468_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 142,126,158 | 142,366,468 |
| nssv18281694 | Submitted genomic | NC_000003.11:g.(?_ 141845000)_(142085 310_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 141,845,000 | 142,085,310 | ||
| nssv18282063 | Submitted genomic | NC_000003.11:g.(?_ 141845000)_(142085 310_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 141,845,000 | 142,085,310 | ||
| nssv18287077 | Submitted genomic | NC_000003.11:g.(?_ 141845000)_(142085 310_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 141,845,000 | 142,085,310 | ||
| nssv18290360 | Submitted genomic | NC_000003.11:g.(?_ 141845000)_(142085 310_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 141,845,000 | 142,085,310 | ||
| nssv18291060 | Submitted genomic | NC_000003.11:g.(?_ 141845000)_(142085 310_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 141,845,000 | 142,085,310 | ||
| nssv18291369 | Submitted genomic | NC_000003.11:g.(?_ 141845000)_(142085 310_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 141,845,000 | 142,085,310 | ||
| nssv18291707 | Submitted genomic | NC_000003.11:g.(?_ 141845000)_(142085 310_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 141,845,000 | 142,085,310 | ||
| nssv18292694 | Submitted genomic | NC_000003.11:g.(?_ 141845000)_(142085 310_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 141,845,000 | 142,085,310 | ||
| nssv18294995 | Submitted genomic | NC_000003.11:g.(?_ 141845000)_(142085 310_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 141,845,000 | 142,085,310 | ||
| nssv18295624 | Submitted genomic | NC_000003.11:g.(?_ 141845000)_(142085 310_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 141,845,000 | 142,085,310 | ||
| nssv18297306 | Submitted genomic | NC_000003.11:g.(?_ 141845000)_(142085 310_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 141,845,000 | 142,085,310 | ||
| nssv18316224 | Submitted genomic | NC_000003.11:g.(?_ 141845000)_(142085 310_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 141,845,000 | 142,085,310 | ||
| nssv18321191 | Submitted genomic | NC_000003.11:g.(?_ 141845000)_(142085 310_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 141,845,000 | 142,085,310 | ||
| nssv18325579 | Submitted genomic | NC_000003.11:g.(?_ 141845000)_(142085 310_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 141,845,000 | 142,085,310 | ||
| nssv18325716 | Submitted genomic | NC_000003.11:g.(?_ 141845000)_(142085 310_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 141,845,000 | 142,085,310 |