A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590546



Internal ID16031269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:65487766..67232113hg38UCSC Ensembl
Innerchr3:65473441..67282537hg19UCSC Ensembl
Innerchr3:65448481..67365227hg18UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg381744348
hg191809097
hg181916747
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv964209
Samples
Known GenesKBTBD8, LRIG1, MAGI1, MAGI1-AS1, MIR4272, SLC25A26
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590546
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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