A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18190095



Internal ID20757135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54972277..54972577hg38UCSC Ensembl
chr14:55438995..55439295hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6492957
Supporting Variants
Samples
Known GenesWDHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18190095
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00033


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