A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546773



Internal ID15987496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:88320368..88696449hg38UCSC Ensembl
Innerchr1:88786051..89162132hg19UCSC Ensembl
Innerchr1:88558639..88934720hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38376082
hg19376082
hg18376082
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv718755
Samples
Known GenesPKN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546773
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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