A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6475696



Internal ID21133249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:49765207..49783255hg38UCSC Ensembl
chr14:50231925..50249973hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3818049
hg1918049
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18177125
Samples
Known GenesKLHDC2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6475696
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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