A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591240



Internal ID16378649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:105494149..105597925hg38UCSC Ensembl
Innerchr3:105212993..105316769hg19UCSC Ensembl
Innerchr3:106695683..106799459hg18UCSC Ensembl
Cytoband3q13.11
Allele length
AssemblyAllele length
hg38103777
hg19103777
hg18103777
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152517
SamplesHGDP01064
Known GenesALCAM
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591240
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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