A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv723008



Internal ID16016964
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 StatusS
Merged Variantsnsv547615
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv723008
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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