nsv6628817
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:84,789
- 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: 1023 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 1023 SVs from 84 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6628817 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 75,420,342 | 75,505,130 |
nsv6628817 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 75,469,493 | 75,554,281 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18289265 | deletion | OSC3509 | SNP array | Probe signal intensity | 11 |
nssv18292125 | deletion | OSC3812 | SNP array | Probe signal intensity | nssv18291541 |
nssv18294852 | deletion | OSC0459 | SNP array | Probe signal intensity | 6 |
nssv18297895 | deletion | OSC0518 | SNP array | Probe signal intensity | 7 |
nssv18323506 | deletion | OSC1545 | SNP array | Probe signal intensity | nssv18323505, nssv18322568 |
nssv18324410 | deletion | OSC1732 | SNP array | Probe signal intensity | nssv18325052, nssv18324695 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18289265 | Remapped | Perfect | NC_000003.12:g.(?_ 75420342)_(7550513 0_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 75,420,342 | 75,505,130 |
nssv18292125 | Remapped | Perfect | NC_000003.12:g.(?_ 75420342)_(7550513 0_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 75,420,342 | 75,505,130 |
nssv18294852 | Remapped | Perfect | NC_000003.12:g.(?_ 75420342)_(7550513 0_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 75,420,342 | 75,505,130 |
nssv18297895 | Remapped | Perfect | NC_000003.12:g.(?_ 75420342)_(7550513 0_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 75,420,342 | 75,505,130 |
nssv18323506 | Remapped | Perfect | NC_000003.12:g.(?_ 75420342)_(7550513 0_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 75,420,342 | 75,505,130 |
nssv18324410 | Remapped | Perfect | NC_000003.12:g.(?_ 75420342)_(7550513 0_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 75,420,342 | 75,505,130 |
nssv18289265 | Submitted genomic | NC_000003.11:g.(?_ 75469493)_(7555428 1_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 75,469,493 | 75,554,281 | ||
nssv18292125 | Submitted genomic | NC_000003.11:g.(?_ 75469493)_(7555428 1_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 75,469,493 | 75,554,281 | ||
nssv18294852 | Submitted genomic | NC_000003.11:g.(?_ 75469493)_(7555428 1_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 75,469,493 | 75,554,281 | ||
nssv18297895 | Submitted genomic | NC_000003.11:g.(?_ 75469493)_(7555428 1_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 75,469,493 | 75,554,281 | ||
nssv18323506 | Submitted genomic | NC_000003.11:g.(?_ 75469493)_(7555428 1_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 75,469,493 | 75,554,281 | ||
nssv18324410 | Submitted genomic | NC_000003.11:g.(?_ 75469493)_(7555428 1_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 75,469,493 | 75,554,281 |