A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv563533



Internal ID16004256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:114249688..114337675hg38UCSC Ensembl
Innerchr13:115015163..115103150hg19UCSC Ensembl
Innerchr13:114033265..114121252hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3887988
hg1987988
hg1887988
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv821195
Samples
Known GenesCDC16, CHAMP1, UPF3A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv563533
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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