A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17995267



Internal ID20562307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:94047477..94052464hg38UCSC Ensembl
chr11:93780643..93785630hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg384988
hg194988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6466006
Supporting Variants
Samples
Known GenesHEPHL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17995267
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00076


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