A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6404869



Internal ID21062422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141416301..141427600hg38UCSC Ensembl
chr5:140795868..140807167hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3811300
hg1911300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18213209
Samples
Known GenesPCDHGA1, PCDHGA10, PCDHGA11, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGB8P
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6404869
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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