A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2766677



Internal ID17834964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:103880012..103889429hg38UCSC Ensembl
Innerchr12:104273790..104283207hg19UCSC Ensembl
Innerchr12:102797920..102807337hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg389418
hg199418
hg189418
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977145
Supporting Variants
SamplesHGDP00998
Known GenesGNN
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2766677
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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