A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546205



Internal ID15986928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:50956373..50968925hg38UCSC Ensembl
Innerchr1:51422045..51434597hg19UCSC Ensembl
Innerchr1:51194633..51207185hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3812553
hg1912553
hg1812553
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv712981
Samples
Known GenesCDKN2C, FAF1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546205
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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