A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612113



Internal ID16399522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:120604105..120623156hg38UCSC Ensembl
Innerchr8:121616345..121635396hg19UCSC Ensembl
Innerchr8:121685526..121704577hg18UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg3819052
hg1919052
hg1819052
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1120444
Samples
Known GenesSNTB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612113
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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