A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18117897



Internal ID20684937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:56592301..56593000hg38UCSC Ensembl
chr4:57458467..57459166hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38700
hg19700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6387039
Supporting Variants
Samples
Known GenesTHEGL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18117897
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.05066


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