A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612035



Internal ID16399444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:117862068..117869627hg38UCSC Ensembl
Innerchr8:118874307..118881866hg19UCSC Ensembl
Innerchr8:118943488..118951047hg18UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg387560
hg197560
hg187560
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1120102, nssv1120099, nssv1120087, nssv1120105, nssv1120100, nssv1120101, nssv1120088, nssv1120090, nssv1120103, nssv1120091, nssv1120098, nssv1120089, nssv1120094, nssv1120092, nssv1120096, nssv1120095, nssv1120097, nssv1120104, nssv1120093
Samples
Known GenesEXT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612035
Frequency
Sample Size17421
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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