A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6345193



Internal ID21002746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32514080..32647625hg38UCSC Ensembl
chr2:32739147..32872692hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38133546
hg19133546
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18208212
Samples
Known GenesBIRC6, MIR4765, MIR558, TTC27
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6345193
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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