A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1120021



Internal ID15973207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:117862068..117863069hg38UCSC Ensembl
Innerchr8:118874307..118875308hg19UCSC Ensembl
Innerchr8:118943488..118944489hg18UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg381002
hg191002
hg181002
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv612031
Supporting Variants
Samples
Known GenesEXT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1120021
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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