A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6345446



Internal ID21002999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32243715..32729758hg38UCSC Ensembl
chr2:32468784..32954825hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38486044
hg19486042
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18208201
Samples
Known GenesBIRC6, MIR4765, MIR558, NLRC4, TTC27, YIPF4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6345446
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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