A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027994



Internal ID19117212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:104903656..105396039hg38UCSC Ensembl
Innerchr5:104239357..104731740hg19UCSC Ensembl
Innerchr5:104267256..104759639hg18UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg38492384
hg19492384
hg18492384
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3646032
Samples
Known GenesRAB9BP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027994
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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