A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065984



Internal ID18808515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:3138201..3192030hg38UCSC Ensembl
Innerchr18:3138199..3192028hg19UCSC Ensembl
Innerchr18:3128199..3182028hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3853830
hg1953830
hg1853830
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3564068
Samples
Known GenesMYOM1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065984
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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