A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18121771



Internal ID20688811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:87205901..87209700hg38UCSC Ensembl
chr4:88127053..88130852hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg383800
hg193800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6386077
Supporting Variants
Samples
Known GenesKLHL8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18121771
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00018


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