A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612049



Internal ID16399458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:118628930..118714003hg38UCSC Ensembl
Innerchr8:119641169..119726242hg19UCSC Ensembl
Innerchr8:119710350..119795423hg18UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg3885074
hg1985074
hg1885074
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1156863
SamplesHGDP00054
Known GenesSAMD12-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612049
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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