A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6356339



Internal ID21013892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:54981085..55702862hg38UCSC Ensembl
chr3:55015112..55736890hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg38721778
hg19721779
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18210023
Samples
Known GenesCACNA2D3, ERC2, ERC2-IT1, WNT5A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6356339
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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