nsv6630838
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:20,814
- 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: 218 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 218 SVs from 48 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6630838 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 120,664,337 | 120,685,150 |
nsv6630838 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 120,985,483 | 121,006,296 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18297245 | deletion | OSC4854 | SNP array | Probe signal intensity | nssv18296681, nssv18297244 |
nssv18297249 | deletion | OSC4856 | SNP array | Probe signal intensity | 8 |
nssv18297578 | deletion | OSC4861 | SNP array | Probe signal intensity | 7 |
nssv18298526 | deletion | OSC5124 | SNP array | Probe signal intensity | nssv18298200, nssv18298854 |
nssv18298925 | deletion | OSC5150 | SNP array | Probe signal intensity | 6 |
nssv18299037 | deletion | OSC5233 | SNP array | Probe signal intensity | nssv18299625 |
nssv18299562 | deletion | OSC5192 | SNP array | Probe signal intensity | 6 |
nssv18300229 | deletion | OSC5450 | SNP array | Probe signal intensity | nssv18301112, nssv18300821, nssv18301113 |
nssv18301480 | deletion | OSC5698 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv18297245 | Remapped | Perfect | NC_000006.12:g.(?_ 120664337)_(120685 150_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 120,664,337 | 120,685,150 |
nssv18297249 | Remapped | Perfect | NC_000006.12:g.(?_ 120664337)_(120685 150_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 120,664,337 | 120,685,150 |
nssv18297578 | Remapped | Perfect | NC_000006.12:g.(?_ 120664337)_(120685 150_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 120,664,337 | 120,685,150 |
nssv18298526 | Remapped | Perfect | NC_000006.12:g.(?_ 120664337)_(120685 150_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 120,664,337 | 120,685,150 |
nssv18298925 | Remapped | Perfect | NC_000006.12:g.(?_ 120664337)_(120685 150_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 120,664,337 | 120,685,150 |
nssv18299037 | Remapped | Perfect | NC_000006.12:g.(?_ 120664337)_(120685 150_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 120,664,337 | 120,685,150 |
nssv18299562 | Remapped | Perfect | NC_000006.12:g.(?_ 120664337)_(120685 150_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 120,664,337 | 120,685,150 |
nssv18300229 | Remapped | Perfect | NC_000006.12:g.(?_ 120664337)_(120685 150_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 120,664,337 | 120,685,150 |
nssv18301480 | Remapped | Perfect | NC_000006.12:g.(?_ 120664337)_(120685 150_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 120,664,337 | 120,685,150 |
nssv18297245 | Submitted genomic | NC_000006.11:g.(?_ 120985483)_(121006 296_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 120,985,483 | 121,006,296 | ||
nssv18297249 | Submitted genomic | NC_000006.11:g.(?_ 120985483)_(121006 296_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 120,985,483 | 121,006,296 | ||
nssv18297578 | Submitted genomic | NC_000006.11:g.(?_ 120985483)_(121006 296_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 120,985,483 | 121,006,296 | ||
nssv18298526 | Submitted genomic | NC_000006.11:g.(?_ 120985483)_(121006 296_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 120,985,483 | 121,006,296 | ||
nssv18298925 | Submitted genomic | NC_000006.11:g.(?_ 120985483)_(121006 296_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 120,985,483 | 121,006,296 | ||
nssv18299037 | Submitted genomic | NC_000006.11:g.(?_ 120985483)_(121006 296_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 120,985,483 | 121,006,296 | ||
nssv18299562 | Submitted genomic | NC_000006.11:g.(?_ 120985483)_(121006 296_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 120,985,483 | 121,006,296 | ||
nssv18300229 | Submitted genomic | NC_000006.11:g.(?_ 120985483)_(121006 296_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 120,985,483 | 121,006,296 | ||
nssv18301480 | Submitted genomic | NC_000006.11:g.(?_ 120985483)_(121006 296_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 120,985,483 | 121,006,296 |