A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3648144



Internal ID18599739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140953984..141040639hg38UCSC Ensembl
Innerchr5:140333569..140420224hg19UCSC Ensembl
Innerchr5:140313753..140400408hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3886656
hg1986656
hg1886656
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1031849
Supporting Variants
Samples
Known GenesPCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHAC1, PCDHAC2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3648144
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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