A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125852



Internal ID18915443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:141480314..141482754hg38UCSC Ensembl
Outerchr5:140859881..140862321hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg382441
hg192441
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984060
SamplesKWS2
Known GenesPCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125852
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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