A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598752



Internal ID16386161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:81604900..81668633hg38UCSC Ensembl
Innerchr5:80900719..80964452hg19UCSC Ensembl
Innerchr5:80936475..81000208hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3863734
hg1963734
hg1863734
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153944
Samples1780862090_A
Known GenesSSBP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598752
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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