A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6339985



Internal ID20997538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:31211499..31437517hg38UCSC Ensembl
chr2:31434365..31660383hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg38226019
hg19226019
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18085232
Samples
Known GenesCAPN14, EHD3, XDH
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6339985
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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