A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049859



Internal ID18792390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:72741128..72872273hg38UCSC Ensembl
Innerchr13:73315266..73446411hg19UCSC Ensembl
Innerchr13:72213267..72344412hg18UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg38131146
hg19131146
hg18131146
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3530503
Samples
Known GenesBORA, DIS3, PIBF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049859
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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