nsv6625131
- 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:357,656
- 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: 3984 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 3983 SVs from 108 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6625131 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 42,840,534 | 43,198,189 |
nsv6625131 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 43,344,686 | 43,702,341 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18285578 | deletion | OSC2860 | SNP array | Probe signal intensity | 6 |
nssv18285596 | deletion | OSC2876 | SNP array | Probe signal intensity | 7 |
nssv18286432 | deletion | OSC2820 | SNP array | Probe signal intensity | nssv18285516, nssv18285518, nssv18286431 |
nssv18295414 | deletion | OSC4592 | SNP array | Probe signal intensity | nssv18295955, nssv18296301 |
nssv18321542 | deletion | OSC1209 | SNP array | Probe signal intensity | 10 |
nssv18321699 | deletion | OSC1139 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv18285578 | Remapped | Perfect | NC_000019.10:g.(?_ 42840534)_(4319818 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 42,840,534 | 43,198,189 |
nssv18285596 | Remapped | Perfect | NC_000019.10:g.(?_ 42840534)_(4319818 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 42,840,534 | 43,198,189 |
nssv18286432 | Remapped | Perfect | NC_000019.10:g.(?_ 42840534)_(4319818 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 42,840,534 | 43,198,189 |
nssv18295414 | Remapped | Perfect | NC_000019.10:g.(?_ 42840534)_(4319818 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 42,840,534 | 43,198,189 |
nssv18321542 | Remapped | Perfect | NC_000019.10:g.(?_ 42840534)_(4319818 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 42,840,534 | 43,198,189 |
nssv18321699 | Remapped | Perfect | NC_000019.10:g.(?_ 42840534)_(4319818 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 42,840,534 | 43,198,189 |
nssv18285578 | Submitted genomic | NC_000019.9:g.(?_4 3344686)_(43702341 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 43,344,686 | 43,702,341 | ||
nssv18285596 | Submitted genomic | NC_000019.9:g.(?_4 3344686)_(43702341 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 43,344,686 | 43,702,341 | ||
nssv18286432 | Submitted genomic | NC_000019.9:g.(?_4 3344686)_(43702341 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 43,344,686 | 43,702,341 | ||
nssv18295414 | Submitted genomic | NC_000019.9:g.(?_4 3344686)_(43702341 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 43,344,686 | 43,702,341 | ||
nssv18321542 | Submitted genomic | NC_000019.9:g.(?_4 3344686)_(43702341 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 43,344,686 | 43,702,341 | ||
nssv18321699 | Submitted genomic | NC_000019.9:g.(?_4 3344686)_(43702341 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 43,344,686 | 43,702,341 |