A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4010221



Internal ID22071852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:82848120..82849994hg38UCSC Ensembl
Outerchr12:82844211..82851574hg38UCSC Ensembl
Innerchr12:83241899..83243773hg19UCSC Ensembl
Outerchr12:83237990..83245353hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg387364
hg197364
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1154844
Supporting Variants
Samples
Known GenesTMTC2
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4010221
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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