A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6351941



Internal ID21009494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46023832..46030512hg38UCSC Ensembl
chr2:46250971..46257651hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg386681
hg196681
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18089363
Samples
Known GenesPRKCE
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6351941
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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