nsv6621762
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:37,727
- 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: 178 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 178 SVs from 40 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6621762 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 97,623,103 | 97,660,829 |
nsv6621762 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 98,016,881 | 98,054,607 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18284098 | deletion | OSC2478 | SNP array | Probe signal intensity | nssv18285027, nssv18285028, nssv18284703 |
nssv18286252 | deletion | OSC0280 | SNP array | Probe signal intensity | nssv18285325, nssv18285335, nssv18285944 |
nssv18291586 | deletion | OSC0395 | SNP array | Probe signal intensity | nssv18292167, nssv18292171, nssv18292481 |
nssv18293138 | deletion | OSC4122 | SNP array | Probe signal intensity | 7 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18284098 | Remapped | Perfect | NC_000012.12:g.(?_ 97623103)_(9766082 9_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 97,623,103 | 97,660,829 |
nssv18286252 | Remapped | Perfect | NC_000012.12:g.(?_ 97623103)_(9766082 9_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 97,623,103 | 97,660,829 |
nssv18291586 | Remapped | Perfect | NC_000012.12:g.(?_ 97623103)_(9766082 9_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 97,623,103 | 97,660,829 |
nssv18293138 | Remapped | Perfect | NC_000012.12:g.(?_ 97623103)_(9766082 9_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 97,623,103 | 97,660,829 |
nssv18284098 | Submitted genomic | NC_000012.11:g.(?_ 98016881)_(9805460 7_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 98,016,881 | 98,054,607 | ||
nssv18286252 | Submitted genomic | NC_000012.11:g.(?_ 98016881)_(9805460 7_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 98,016,881 | 98,054,607 | ||
nssv18291586 | Submitted genomic | NC_000012.11:g.(?_ 98016881)_(9805460 7_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 98,016,881 | 98,054,607 | ||
nssv18293138 | Submitted genomic | NC_000012.11:g.(?_ 98016881)_(9805460 7_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 98,016,881 | 98,054,607 |