nsv6625203
- 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:48,133
- 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: 1539 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 1539 SVs from 99 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6625203 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 43,150,057 | 43,198,189 |
nsv6625203 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 43,654,209 | 43,702,341 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18282393 | deletion | OSC2136 | SNP array | Probe signal intensity | 6 |
nssv18316719 | deletion | OSC0872 | SNP array | Probe signal intensity | nssv18316724, nssv18316980 |
nssv18323062 | deletion | OSC1431 | SNP array | Probe signal intensity | 7 |
nssv18326194 | deletion | OSC1985 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv18282393 | Remapped | Perfect | NC_000019.10:g.(?_ 43150057)_(4319818 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,150,057 | 43,198,189 |
nssv18316719 | Remapped | Perfect | NC_000019.10:g.(?_ 43150057)_(4319818 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,150,057 | 43,198,189 |
nssv18323062 | Remapped | Perfect | NC_000019.10:g.(?_ 43150057)_(4319818 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,150,057 | 43,198,189 |
nssv18326194 | Remapped | Perfect | NC_000019.10:g.(?_ 43150057)_(4319818 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,150,057 | 43,198,189 |
nssv18282393 | Submitted genomic | NC_000019.9:g.(?_4 3654209)_(43702341 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 43,654,209 | 43,702,341 | ||
nssv18316719 | Submitted genomic | NC_000019.9:g.(?_4 3654209)_(43702341 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 43,654,209 | 43,702,341 | ||
nssv18323062 | Submitted genomic | NC_000019.9:g.(?_4 3654209)_(43702341 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 43,654,209 | 43,702,341 | ||
nssv18326194 | Submitted genomic | NC_000019.9:g.(?_4 3654209)_(43702341 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 43,654,209 | 43,702,341 |