A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950415



Internal ID16952602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:140844016..140847815hg38UCSC Ensembl
Outerchr5:140223601..140227400hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg383800
hg193800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997848
SamplesBILGI_BIOE
Known GenesPCDHA1, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950415
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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