A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564041



Internal ID16004764
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 StatusM
Merged Variants
Supporting Variantsnssv1149475
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)nsv564041
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer