A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6398225



Internal ID21055778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141096197..141123412hg38UCSC Ensembl
chr5:140475781..140502994hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3827216
hg1927214
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18213362
Samples
Known GenesPCDHB2, PCDHB3, PCDHB4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6398225
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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