A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18233330



Internal ID20800370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:93416601..93417500hg38UCSC Ensembl
chr6:94126319..94127218hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg38900
hg19900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6406443
Supporting Variants
Samples
Known GenesEPHA7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18233330
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00027


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