A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546146



Internal ID15986869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:44792469..44853080hg38UCSC Ensembl
Innerchr1:45258141..45318752hg19UCSC Ensembl
Innerchr1:45030728..45091339hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3860612
hg1960612
hg1860612
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv712877
Samples
Known GenesBTBD19, EIF2B3, PLK3, PTCH2, TCTEX1D4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546146
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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