A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18189491



Internal ID20756531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:61778131..61804245hg38UCSC Ensembl
chr14:62244849..62270963hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3826115
hg1926115
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6485727
Supporting Variants
Samples
Known GenesSNAPC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18189491
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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