A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18213363



Internal ID20780403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141096201..141102300hg38UCSC Ensembl
chr5:140475785..140481884hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg386100
hg196100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6403663
Supporting Variants
Samples
Known GenesPCDHB2, PCDHB3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18213363
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00174


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