A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973993



Internal ID18262520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:116423207..116437056hg38UCSC Ensembl
Innerchr12:116861012..116874861hg19UCSC Ensembl
Innerchr12:115345395..115359244hg18UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg3813850
hg1913850
hg1813850
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2761287
SamplesHGDP00665
Known GenesMIR4472-2
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973993
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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