A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1035163



Internal ID15541663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:78250972..78329086hg38UCSC Ensembl
Innerchr5:77546796..77624910hg19UCSC Ensembl
Innerchr5:77582552..77660666hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3878115
hg1978115
hg1878115
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv598700
Supporting Variants
Samples
Known GenesAP3B1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1035163
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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