A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18213257



Internal ID20780297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:145995703..145998434hg38UCSC Ensembl
chr5:145375266..145377997hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg382732
hg192732
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6398206
Supporting Variants
Samples
Known GenesSH3RF2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18213257
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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