A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045334



Internal ID19134553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:79096959..79235582hg38UCSC Ensembl
Innerchr13:79671094..79809717hg19UCSC Ensembl
Innerchr13:78569095..78707718hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38138624
hg19138624
hg18138624
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3530517
Samples
Known GenesMIR548A2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1045334
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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