A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545709



Internal ID16333118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:17350413..17356546hg38UCSC Ensembl
Innerchr1:17676908..17683041hg19UCSC Ensembl
Innerchr1:17549495..17555628hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg386134
hg196134
hg186134
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv173n54
Supporting Variantsnssv711240
Samples
Known GenesPADI4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545709
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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