A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561593



Internal ID16002316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:48957415..49105021hg38UCSC Ensembl
Innerchr13:49531551..49679157hg19UCSC Ensembl
Innerchr13:48429552..48577158hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38147607
hg19147607
hg18147607
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175940
SamplesHGDP00682
Known GenesFNDC3A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561593
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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