A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547931



Internal ID16335340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:153699771..153720547hg38UCSC Ensembl
Innerchr1:153672247..153693023hg19UCSC Ensembl
Innerchr1:151938871..151959647hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3820777
hg1920777
hg1820777
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv583n54
Supporting Variantsnssv724845
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547931
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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