nsv6625284
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:37,869
- 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: 557 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 557 SVs from 73 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6625284 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 53,407,265 | 53,445,133 |
nsv6625284 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 53,910,518 | 53,948,386 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18294204 | deletion | OSC4394 | SNP array | Probe signal intensity | nssv18294203, nssv18295099, nssv18295098 |
nssv18297219 | deletion | OSC4829 | SNP array | Probe signal intensity | 12 |
nssv18298413 | deletion | OSC5037 | SNP array | Probe signal intensity | 9 |
nssv18300568 | deletion | OSC5523 | SNP array | Probe signal intensity | 6 |
nssv18301293 | deletion | OSC5583 | SNP array | Probe signal intensity | 5 |
nssv18301346 | deletion | OSC5597 | SNP array | Probe signal intensity | 8 |
nssv18301353 | deletion | OSC5599 | SNP array | Probe signal intensity | 6 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18294204 | Remapped | Perfect | NC_000019.10:g.(?_ 53407265)_(5344513 3_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,407,265 | 53,445,133 |
nssv18297219 | Remapped | Perfect | NC_000019.10:g.(?_ 53407265)_(5344513 3_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,407,265 | 53,445,133 |
nssv18298413 | Remapped | Perfect | NC_000019.10:g.(?_ 53407265)_(5344513 3_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,407,265 | 53,445,133 |
nssv18300568 | Remapped | Perfect | NC_000019.10:g.(?_ 53407265)_(5344513 3_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,407,265 | 53,445,133 |
nssv18301293 | Remapped | Perfect | NC_000019.10:g.(?_ 53407265)_(5344513 3_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,407,265 | 53,445,133 |
nssv18301346 | Remapped | Perfect | NC_000019.10:g.(?_ 53407265)_(5344513 3_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,407,265 | 53,445,133 |
nssv18301353 | Remapped | Perfect | NC_000019.10:g.(?_ 53407265)_(5344513 3_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,407,265 | 53,445,133 |
nssv18294204 | Submitted genomic | NC_000019.9:g.(?_5 3910518)_(53948386 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,910,518 | 53,948,386 | ||
nssv18297219 | Submitted genomic | NC_000019.9:g.(?_5 3910518)_(53948386 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,910,518 | 53,948,386 | ||
nssv18298413 | Submitted genomic | NC_000019.9:g.(?_5 3910518)_(53948386 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,910,518 | 53,948,386 | ||
nssv18300568 | Submitted genomic | NC_000019.9:g.(?_5 3910518)_(53948386 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,910,518 | 53,948,386 | ||
nssv18301293 | Submitted genomic | NC_000019.9:g.(?_5 3910518)_(53948386 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,910,518 | 53,948,386 | ||
nssv18301346 | Submitted genomic | NC_000019.9:g.(?_5 3910518)_(53948386 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,910,518 | 53,948,386 | ||
nssv18301353 | Submitted genomic | NC_000019.9:g.(?_5 3910518)_(53948386 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,910,518 | 53,948,386 |