A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1149475



Internal ID15527943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23392602..23418656hg38UCSC Ensembl
Innerchr14:23861811..23887865hg19UCSC Ensembl
Innerchr14:22931651..22957705hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3826055
hg1926055
hg1826055
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv564041
Supporting Variants
SamplesHGDP00564
Known GenesMIR208B, MYH6, MYH7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1149475
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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