A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv723076



Internal ID15670346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145658467..145809105hg38UCSC Ensembl
Innerchr1:145625979..145776593hg19UCSC Ensembl
Innerchr1:144337336..144487950hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38150639
hg19150615
hg18150615
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv547666
Supporting Variants
Samples
Known GenesCD160, GPR89A, LOC100288142, NBPF10, PDZK1, RNF115
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv723076
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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