A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3747305



Internal ID19045586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:73705308..74171896hg38UCSC Ensembl
Innerchr5:73001133..73467721hg19UCSC Ensembl
Innerchr5:73036889..73503477hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38466589
hg19466589
hg18466589
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1030552
Supporting Variants
Samples
Known GenesARHGEF28
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3747305
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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