A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6400182



Internal ID21057735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:122033378..122201808hg38UCSC Ensembl
chr5:121369073..121537503hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38168431
hg19168431
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18213128
Samples
Known GenesLOC100505841, LOX, ZNF474
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6400182
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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