A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973988



Internal ID18262515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:53532146..53538989hg38UCSC Ensembl
Innerchr12:53925930..53932773hg19UCSC Ensembl
Innerchr12:52212197..52219040hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg386844
hg196844
hg186844
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2764476
SamplesHGDP00998
Known GenesATF7
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973988
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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