A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6048822



Internal ID21958057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:203506798..203506798hg38UCSC Ensembl
chr2:204371521..204371521hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17532420
Samples
Known GenesRAPH1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6048822
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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