A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv799361



Internal ID16093317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:83111733..83371290hg38UCSC Ensembl
Innerchr12:83505512..83765069hg19UCSC Ensembl
Innerchr12:82029643..82289200hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38259558
hg19259558
hg18259558
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559559
Supporting Variants
Samples
Known GenesTMTC2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv799361
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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