A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977145



Internal ID18612351
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2766677
SamplesHGDP00998
Known GenesGNN
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977145
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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