A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947420



Internal ID18594268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:28027613..28032688hg38UCSC Ensembl
Innerchr1:28354124..28359199hg19UCSC Ensembl
Innerchr1:28226711..28231786hg18UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg385076
hg195076
hg185076
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2760201
SamplesHGDP00998
Known GenesEYA3
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947420
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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