A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv609696



Internal ID16050419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2549726..3391130hg38UCSC Ensembl
Innerchr8:2406818..3248652hg19UCSC Ensembl
Innerchr8:2394225..3236059hg18UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38841405
hg19841835
hg18841835
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11848n54
Supporting Variantsnssv1103999
Samples
Known GenesCSMD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv609696
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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