A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1173050



Internal ID15877818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:88756737..88829810hg38UCSC Ensembl
Innerchr1:89222420..89295493hg19UCSC Ensembl
Innerchr1:88995008..89068081hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3873074
hg1973074
hg1873074
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546778
Supporting Variants
SamplesHGDP01049
Known GenesPKN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1173050
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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