A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561543



Internal ID16348952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:42220372..42238220hg38UCSC Ensembl
Innerchr13:42794508..42812356hg19UCSC Ensembl
Innerchr13:41692508..41710356hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3817849
hg1917849
hg1817849
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175927
Samples1780862162_A
Known GenesDGKH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561543
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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