A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546471



Internal ID15987194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:70898422..71002810hg38UCSC Ensembl
Innerchr1:71364105..71468493hg19UCSC Ensembl
Innerchr1:71136693..71241081hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38104389
hg19104389
hg18104389
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv716167
Samples
Known GenesPTGER3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546471
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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