A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545429



Internal ID16332838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:11966298..11971425hg38UCSC Ensembl
Innerchr1:12026355..12031482hg19UCSC Ensembl
Innerchr1:11948942..11954069hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg385128
hg195128
hg185128
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv110n54
Supporting Variantsnssv709949
Samples
Known GenesPLOD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545429
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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