A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546796



Internal ID15987519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:89052437..89256179hg38UCSC Ensembl
Innerchr1:89518120..89721862hg19UCSC Ensembl
Innerchr1:89290708..89494450hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38203743
hg19203743
hg18203743
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv719078
Samples
Known GenesGBP1, GBP2, GBP4, GBP7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546796
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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