A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030552



Internal ID18773083
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 StatusM
Merged Variants
Supporting Variantsnssv3747305
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)nsv1030552
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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