A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4008366



Internal ID22069997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7851829..7971304hg38UCSC Ensembl
Outerchr12:7842191..7978362hg38UCSC Ensembl
Innerchr12:8004425..8123900hg19UCSC Ensembl
Outerchr12:7994787..8130958hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38136172
hg19136172
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1154795
Supporting Variants
Samples
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4008366
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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