A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546141



Internal ID16333550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:43975861..43985562hg38UCSC Ensembl
Innerchr1:44441533..44451234hg19UCSC Ensembl
Innerchr1:44214120..44223821hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg389702
hg199702
hg189702
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv712874
Samples
Known GenesATP6V0B, B4GALT2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546141
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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