A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv569930



Internal ID16010653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:72094085..72095338hg38UCSC Ensembl
Innerchr15:72386426..72387679hg19UCSC Ensembl
Innerchr15:70173480..70174733hg18UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg381254
hg191254
hg181254
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4614n54
Supporting Variantsnssv845049, nssv845050, nssv845048
Samples
Known GenesMYO9A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv569930
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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