A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610771



Internal ID16051494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:22149780..22200609hg38UCSC Ensembl
Innerchr8:22007293..22058122hg19UCSC Ensembl
Innerchr8:22063238..22114067hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3850830
hg1950830
hg1850830
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1156364
SamplesHGDP00850
Known GenesBMP1, LGI3, SFTPC
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610771
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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