A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050415



Internal ID19139634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:59911385..59995241hg38UCSC Ensembl
Innerchr13:60485519..60569375hg19UCSC Ensembl
Innerchr13:59383520..59467376hg18UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg3883857
hg1983857
hg1883857
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3526584
Samples
Known GenesDIAPH3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050415
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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