nsv6635121
- Organism: Homo sapiens
- Study:nstd227 (Kikas et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:220,959
- Publication(s):Kikas 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: 713 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 713 SVs from 69 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6635121 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 56,407,229 | 56,628,187 |
nsv6635121 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 56,918,598 | 57,139,555 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv18327801 | duplication | SNP array | Probe signal intensity |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18327801 | Remapped | Perfect | NC_000019.10:g.(56 407229_?)_(?_56628 187)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 56,407,229 | 56,628,187 |
nssv18327801 | Submitted genomic | NC_000019.9:g.(569 18598_?)_(?_571395 55)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 56,918,598 | 57,139,555 |