A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548990



Internal ID15989713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:200400630..200452338hg38UCSC Ensembl
Innerchr1:200369758..200421466hg19UCSC Ensembl
Innerchr1:198636381..198688089hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3851709
hg1951709
hg1851709
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv734678
Samples
Known GenesZNF281
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548990
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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