A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202886



Internal ID20769926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:44894362..44942872hg38UCSC Ensembl
chr20:43523003..43571513hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3848511
hg1948511
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6550090
Supporting Variants
Samples
Known GenesPABPC1L, TOMM34, YWHAB
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202886
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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