A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611854



Internal ID16399263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:107491474..107493957hg38UCSC Ensembl
Innerchr8:108503702..108506185hg19UCSC Ensembl
Innerchr8:108572878..108575361hg18UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg382484
hg192484
hg182484
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12253n54
Supporting Variantsnssv1118248, nssv1118251, nssv1118249, nssv1118246, nssv1118252, nssv1118250, nssv1118247
Samples
Known GenesANGPT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611854
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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