A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6415005



Internal ID21072558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140924199..140932176hg38UCSC Ensembl
chr5:140303784..140311761hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg387978
hg197978
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18213356
Samples
Known GenesPCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHAC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6415005
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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