A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597069



Internal ID16037792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:8757929..9209719hg38UCSC Ensembl
Innerchr5:8758041..9209831hg19UCSC Ensembl
Innerchr5:8811041..9262831hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38451791
hg19451791
hg18451791
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1024128
Samples
Known GenesMIR4636, SEMA5A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597069
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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