A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030036



Internal ID19119255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180116546..180183871hg38UCSC Ensembl
Innerchr5:179543546..179610871hg19UCSC Ensembl
Innerchr5:179476152..179543477hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3867326
hg1967326
hg1867326
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3649316
Samples
Known GenesRASGEF1C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030036
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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