A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561241



Internal ID16001964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:20398414..20486803hg38UCSC Ensembl
Innerchr13:20972553..21060942hg19UCSC Ensembl
Innerchr13:19870553..19958942hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg3888390
hg1988390
hg1888390
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3075n54
Supporting Variantsnssv1175918
SamplesHGDP00821
Known GenesCRYL1, MIR4499
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561241
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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