A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046022



Internal ID18788553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:78715527..79090837hg38UCSC Ensembl
Innerchr13:79289662..79664972hg19UCSC Ensembl
Innerchr13:78187663..78562973hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38375311
hg19375311
hg18375311
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3530513
Samples
Known GenesLINC00331, MIR548A2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046022
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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