A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612895



Internal ID16053618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143719073..143827718hg38UCSC Ensembl
Innerchr8:144801243..144909888hg19UCSC Ensembl
Innerchr8:144873231..144981876hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38108646
hg19108646
hg18108646
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1125738
Samples
Known GenesFAM83H, FAM83H-AS1, MAPK15, MIR4664, MIR937, PUF60, SCRIB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612895
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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