A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6398251



Internal ID21055804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141345601..141471400hg38UCSC Ensembl
chr5:140725168..140850967hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38125800
hg19125800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18213204
Samples
Known GenesPCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, 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)nsv6398251
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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