A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548530



Internal ID16335939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:189695727..189806645hg38UCSC Ensembl
Innerchr1:189664857..189775775hg19UCSC Ensembl
Innerchr1:187931480..188042398hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38110919
hg19110919
hg18110919
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv732553
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548530
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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