A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545355



Internal ID15986078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:9258342..9352349hg38UCSC Ensembl
Innerchr1:9318401..9412408hg19UCSC Ensembl
Innerchr1:9240988..9334995hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3894008
hg1994008
hg1894008
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv97n54
Supporting Variantsnssv1173662
Samples1780862577_A
Known GenesH6PD, SPSB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545355
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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