A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547615



Internal ID16335024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119285919..119333107hg38UCSC Ensembl
Innerchr1:119828542..119875730hg19UCSC Ensembl
Innerchr1:119630065..119677253hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3847189
hg1947189
hg1847189
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv723008
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547615
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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