A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049544



Internal ID18792075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:102464997..102667048hg38UCSC Ensembl
Innerchr14:102931334..103133385hg19UCSC Ensembl
Innerchr14:102001087..102203138hg18UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg38202052
hg19202052
hg18202052
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3711392
Samples
Known GenesANKRD9, MIR4309, RCOR1, TECPR2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049544
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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