A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612894



Internal ID16400303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143717295..143727634hg38UCSC Ensembl
Innerchr8:144799465..144809804hg19UCSC Ensembl
Innerchr8:144871453..144881792hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3810340
hg1910340
hg1810340
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1125737
Samples
Known GenesFAM83H, MAPK15
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612894
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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