A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612050



Internal ID16399459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:118672624..118711658hg38UCSC Ensembl
Innerchr8:119684863..119723897hg19UCSC Ensembl
Innerchr8:119754044..119793078hg18UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg3839035
hg1939035
hg1839035
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1120119, nssv1120118
Samples
Known GenesSAMD12-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612050
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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