A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18116807



Internal ID20683847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:44246570..44247073hg38UCSC Ensembl
chr4:44248587..44249090hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg38504
hg19504
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6384033
Supporting Variants
Samples
Known GenesKCTD8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18116807
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00057


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