A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv708746



Internal ID15656016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:2428542..2535194hg38UCSC Ensembl
Innerchr1:2359981..2466633hg19UCSC Ensembl
Innerchr1:2349841..2456493hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38106653
hg19106653
hg18106653
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv545076
Supporting Variants
Samples
Known GenesHES5, PANK4, PLCH2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv708746
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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