A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545713



Internal ID15986436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:18217290..18231251hg38UCSC Ensembl
Innerchr1:18543784..18557745hg19UCSC Ensembl
Innerchr1:18416371..18430332hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3813962
hg1913962
hg1813962
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173789
SamplesHGDP00554
Known GenesIGSF21
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545713
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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