A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18185612



Internal ID20752652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:41131701..41193500hg38UCSC Ensembl
chr13:41705837..41767636hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3861800
hg1961800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6479646
Supporting Variants
Samples
Known GenesKBTBD6, KBTBD7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18185612
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00015


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