A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv793673



Internal ID16087629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:40396896..40420650hg38UCSC Ensembl
Innerchr12:40790698..40814452hg19UCSC Ensembl
Innerchr12:39076965..39100719hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3823755
hg1923755
hg1823755
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv558599
Supporting Variants
Samples
Known GenesMUC19
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv793673
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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