A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547339



Internal ID15988062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:107779913..108233742hg38UCSC Ensembl
Innerchr1:108322535..108776364hg19UCSC Ensembl
Innerchr1:108124058..108577887hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38453830
hg19453830
hg18453830
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv469n54
Supporting Variantsnssv720735
Samples
Known GenesMIR7852, NBPF4, SLC25A24, VAV3, VAV3-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547339
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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