A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv468709



Internal ID15386775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140848387..140850586hg38UCSC Ensembl
Innerchr5:140227972..140230171hg19UCSC Ensembl
Innerchr5:140208156..140210355hg18UCSC Ensembl
Innerchr5:140256473..140258672hg16UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg382200
hg192200
hg182200
hg162200
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv437955
Supporting Variants
SamplesNA18990
Known GenesPCDHA1, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodSNP array
AnalysisNull genotypes - for each genotype assay and population sample we defined the null genotype pattern of that assay as the binary vector (length 90) of null genotype calls across the 90 individuals.
PlatformNot reported
Comments
ReferenceMcCarroll_et_al_2006
Pubmed ID16468122
Accession Number(s)nssv468709
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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