A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050457



Internal ID19139676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:83966711..84102655hg38UCSC Ensembl
Innerchr13:84540846..84676790hg19UCSC Ensembl
Innerchr13:83438847..83574791hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38135945
hg19135945
hg18135945
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3525406, nssv3525407
Samples
Known GenesMIR548F1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050457
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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