A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545698



Internal ID16333107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:17349796..17354782hg38UCSC Ensembl
Innerchr1:17676291..17681277hg19UCSC Ensembl
Innerchr1:17548878..17553864hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg384987
hg194987
hg184987
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv173n54
Supporting Variantsnssv711225
Samples
Known GenesPADI4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545698
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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