nsv6626008
- 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:57,791
- 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: 1361 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 1363 SVs from 91 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6626008 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 248,592,989 | 248,650,779 |
| nsv6626008 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 248,756,290 | 248,814,080 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18300177 | deletion | OSC5411 | SNP array | Probe signal intensity | nssv18300760, nssv18301066, nssv18300759 |
| nssv18301110 | deletion | OSC5446 | SNP array | Probe signal intensity | 9 |
| nssv18301112 | deletion | OSC5450 | SNP array | Probe signal intensity | nssv18301113, nssv18300229, nssv18300821 |
| nssv18321741 | deletion | OSC1165 | SNP array | Probe signal intensity | 5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18300177 | Remapped | Perfect | NC_000001.11:g.(?_ 248592989)_(248650 779_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,592,989 | 248,650,779 |
| nssv18301110 | Remapped | Perfect | NC_000001.11:g.(?_ 248592989)_(248650 779_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,592,989 | 248,650,779 |
| nssv18301112 | Remapped | Perfect | NC_000001.11:g.(?_ 248592989)_(248650 779_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,592,989 | 248,650,779 |
| nssv18321741 | Remapped | Perfect | NC_000001.11:g.(?_ 248592989)_(248650 779_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,592,989 | 248,650,779 |
| nssv18300177 | Submitted genomic | NC_000001.10:g.(?_ 248756290)_(248814 080_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 248,756,290 | 248,814,080 | ||
| nssv18301110 | Submitted genomic | NC_000001.10:g.(?_ 248756290)_(248814 080_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 248,756,290 | 248,814,080 | ||
| nssv18301112 | Submitted genomic | NC_000001.10:g.(?_ 248756290)_(248814 080_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 248,756,290 | 248,814,080 | ||
| nssv18321741 | Submitted genomic | NC_000001.10:g.(?_ 248756290)_(248814 080_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 248,756,290 | 248,814,080 |