A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv712965



Internal ID16006921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:49238414..49388176hg38UCSC Ensembl
Innerchr1:49704086..49853848hg19UCSC Ensembl
Innerchr1:49476673..49626435hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38149763
hg19149763
hg18149763
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546195
Supporting Variants
Samples
Known GenesAGBL4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv712965
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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