A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv800002



Internal ID16093958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:86480814..87512101hg38UCSC Ensembl
Innerchr12:86874591..87905878hg19UCSC Ensembl
Innerchr12:85398722..86430009hg18UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg381031288
hg191031288
hg181031288
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559689
Supporting Variants
Samples
Known GenesMGAT4C, MIR548AL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv800002
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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