A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3965809



Internal ID18895890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:140842552..140859346hg38UCSC Ensembl
Outerchr5:140222137..140238931hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3816795
hg1916795
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1112113
Supporting Variants
SamplesKWS2
Known GenesPCDHA1, PCDHA10, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3965809
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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