A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612768



Internal ID16400177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143426598..143440218hg38UCSC Ensembl
Innerchr8:144508768..144522388hg19UCSC Ensembl
Innerchr8:144579911..144593531hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3813621
hg1913621
hg1813621
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1125285
Samples
Known GenesMAFA, ZC3H3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612768
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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