A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546785



Internal ID15987508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:88994245..89010744hg38UCSC Ensembl
Innerchr1:89459928..89476427hg19UCSC Ensembl
Innerchr1:89232516..89249015hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3816500
hg1916500
hg1816500
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv718839
Samples
Known GenesGBP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546785
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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