A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5961n223



Internal ID22808929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140745801..140905800hg38UCSC Ensembl
chr5:140125386..140285385hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38160000
hg19160000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6396587, nsv6407938
Samples
Known GenesPCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv5961n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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