A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547681



Internal ID15988404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148255115..148355701hg38UCSC Ensembl
Innerchr1:147727386..147827829hg19UCSC Ensembl
Innerchr1:146194010..146294453hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38100587
hg19100444
hg18100444
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv535n54
Supporting Variantsnssv723087
Samples
Known GenesMIR5087, NBPF10, NBPF8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547681
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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