A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545107



Internal ID15985830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:3167572..3168050hg38UCSC Ensembl
Innerchr1:3084136..3084614hg19UCSC Ensembl
Innerchr1:3073996..3074474hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38479
hg19479
hg18479
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv54n54
Supporting Variantsnssv708774, nssv708773
Samples
Known GenesPRDM16
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545107
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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