A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1150582



Internal ID15528415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:3188978..3216304hg38UCSC Ensembl
Innerchr18:3188976..3216302hg19UCSC Ensembl
Innerchr18:3178976..3206302hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3827327
hg1927327
hg1827327
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv576315
Supporting Variants
SamplesHGDP00637
Known GenesMYOM1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1150582
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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