A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547958



Internal ID15988681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:154596207..154828771hg38UCSC Ensembl
Innerchr1:154568683..154801247hg19UCSC Ensembl
Innerchr1:152835307..153067871hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38232565
hg19232565
hg18232565
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173205
SamplesHGDP01370
Known GenesADAR, KCNN3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547958
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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