A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576313



Internal ID16017036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:3039188..3183356hg38UCSC Ensembl
Innerchr18:3039186..3183354hg19UCSC Ensembl
Innerchr18:3029186..3173354hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38144169
hg19144169
hg18144169
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv877421, nssv877422
Samples
Known GenesMYOM1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576313
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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