A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545346



Internal ID16332755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:8998487..9020907hg38UCSC Ensembl
Innerchr1:9058546..9080966hg19UCSC Ensembl
Innerchr1:8981133..9003553hg18UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg3822421
hg1922421
hg1822421
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173657
SamplesHGDP00806
Known GenesSLC2A7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545346
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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