A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18209823



Internal ID20776864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46940201..46942500hg38UCSC Ensembl
chr2:47167340..47169639hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg382300
hg192300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6337823
Supporting Variants
Samples
Known GenesMCFD2, TTC7A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18209823
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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