A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029181



Internal ID19118400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:78874705..78952113hg38UCSC Ensembl
Innerchr5:78170528..78247936hg19UCSC Ensembl
Innerchr5:78206284..78283692hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3877409
hg1977409
hg1877409
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3639049
Samples
Known GenesARSB
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1029181
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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