A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18207947



Internal ID20774987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122381201..122389000hg38UCSC Ensembl
chr3:122100048..122107847hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg387800
hg197800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6370959
Supporting Variants
Samples
Known GenesCCDC58, FAM162A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18207947
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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