A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548486



Internal ID16335895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:188998225..189118978hg38UCSC Ensembl
Innerchr1:188967356..189088109hg19UCSC Ensembl
Innerchr1:187233979..187354732hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38120754
hg19120754
hg18120754
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv680n54
Supporting Variantsnssv732522
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548486
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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