A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6344873



Internal ID21002426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240582795..240647753hg38UCSC Ensembl
chr2:241522212..241587170hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3864959
hg1964959
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18208996
Samples
Known GenesCAPN10, CAPN10-AS1, GPR35
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6344873
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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