A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18180696



Internal ID20747736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:52705056..52710238hg38UCSC Ensembl
chr14:53171774..53176956hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg385183
hg195183
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6478864
Supporting Variants
Samples
Known GenesPSMC6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18180696
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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