A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv544940



Internal ID15985663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1028484..1042400hg38UCSC Ensembl
Innerchr1:963864..977780hg19UCSC Ensembl
Innerchr1:953727..967643hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3813917
hg1913917
hg1813917
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv19n54
Supporting Variantsnssv708460
Samples
Known GenesAGRN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv544940
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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