A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215098



Internal ID20782138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140745801..140900600hg38UCSC Ensembl
chr5:140125386..140280185hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38154800
hg19154800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6396587
Supporting Variants
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)nssv18215098
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00039


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