A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18209334



Internal ID20776374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48403755..48439263hg38UCSC Ensembl
chr3:48445162..48480673hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3835509
hg1935512
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6366837
Supporting Variants
Samples
Known GenesCCDC51, PLXNB1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18209334
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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