A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612048



Internal ID16399457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:118615432..118754926hg38UCSC Ensembl
Innerchr8:119627671..119767165hg19UCSC Ensembl
Innerchr8:119696852..119836346hg18UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg38139495
hg19139495
hg18139495
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1156862
SamplesHGDP00262
Known GenesSAMD12, SAMD12-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612048
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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