A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611482



Internal ID16398891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:69519100..69551393hg38UCSC Ensembl
Innerchr8:70431335..70463628hg19UCSC Ensembl
Innerchr8:70593889..70626182hg18UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg3832294
hg1932294
hg1832294
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12189n54
Supporting Variantsnssv1156854
SamplesHGDP00952
Known GenesSULF1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611482
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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