A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576315



Internal ID16017038
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 StatusM
Merged Variants
Supporting Variantsnssv1150582
SamplesHGDP00637
Known GenesMYOM1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576315
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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