A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947443



Internal ID18247605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:111534504..111538159hg38UCSC Ensembl
Innerchr1:112077126..112080781hg19UCSC Ensembl
Innerchr1:111878649..111882304hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg383656
hg193656
hg183656
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2762606
SamplesHGDP00998
Known GenesADORA3
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947443
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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