A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545712



Internal ID15986435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:18093650..18117498hg38UCSC Ensembl
Innerchr1:18420144..18443992hg19UCSC Ensembl
Innerchr1:18292731..18316579hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3823849
hg1923849
hg1823849
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv177n54
Supporting Variantsnssv711242
Samples
Known GenesIGSF21
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545712
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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