A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561392



Internal ID16002115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:29497108..29517682hg38UCSC Ensembl
Innerchr13:30071245..30091819hg19UCSC Ensembl
Innerchr13:28969245..28989819hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg3820575
hg1920575
hg1820575
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv807243
Samples
Known GenesMTUS2, SLC7A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561392
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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