A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18207953



Internal ID20774993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122780601..122804000hg38UCSC Ensembl
chr3:122499448..122522847hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg3823400
hg1923400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6373863
Supporting Variants
Samples
Known GenesDIRC2, HSPBAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18207953
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00048


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