A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546200



Internal ID16333609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:49488198..49629713hg38UCSC Ensembl
Innerchr1:49953870..50095385hg19UCSC Ensembl
Innerchr1:49726457..49867972hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38141516
hg19141516
hg18141516
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv267n54
Supporting Variantsnssv712971
Samples
Known GenesAGBL4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546200
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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