A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6409946



Internal ID21067499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141234201..141251300hg38UCSC Ensembl
chr5:140613773..140630868hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3817100
hg1917096
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18213386
Samples
Known GenesPCDHB15, PCDHB18, PCDHB19P
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6409946
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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