A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547384



Internal ID15988107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:108191540..108445623hg38UCSC Ensembl
Innerchr1:108734162..108988245hg19UCSC Ensembl
Innerchr1:108535685..108789768hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38254084
hg19254084
hg18254084
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv481n54
Supporting Variantsnssv721061
Samples
Known GenesNBPF4, SLC25A24
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547384
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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