A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6478530



Internal ID21136083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77630281..77745656hg38UCSC Ensembl
chr14:78096624..78211999hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38115376
hg19115376
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18184631
Samples
Known GenesALKBH1, SLIRP, SNW1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6478530
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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