A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977146



Internal ID18265666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:110041155..110068711hg38UCSC Ensembl
Innerchr12:110478960..110506516hg19UCSC Ensembl
Innerchr12:108963343..108990899hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg3827557
hg1927557
hg1827557
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2758210
SamplesHGDP00998
Known GenesC12orf76
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977146
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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