A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612046



Internal ID16399455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:117889689..117958061hg38UCSC Ensembl
Innerchr8:118901928..118970300hg19UCSC Ensembl
Innerchr8:118971109..119039481hg18UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg3868373
hg1968373
hg1868373
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1156861
Samples1780862373_A
Known GenesEXT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612046
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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