A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18213049



Internal ID20780089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:140114125..140122869hg38UCSC Ensembl
chr4:141035279..141044023hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg388745
hg198745
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6389051
Supporting Variants
Samples
Known GenesMAML3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18213049
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0002


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