A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18227002



Internal ID20794042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:53345201..53371500hg38UCSC Ensembl
chr6:53209999..53236298hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3826300
hg1926300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6407242
Supporting Variants
Samples
Known GenesELOVL5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18227002
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00038


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