A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546798



Internal ID15987521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:89206939..89260909hg38UCSC Ensembl
Innerchr1:89672622..89726592hg19UCSC Ensembl
Innerchr1:89445210..89499180hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3853971
hg1953971
hg1853971
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv719079
Samples
Known GenesGBP5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546798
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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