A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598700



Internal ID16039423
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 StatusM
Merged Variants
Supporting Variantsnssv1035163
Samples
Known GenesAP3B1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598700
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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