A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612233



Internal ID16399642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:129993099..130019581hg38UCSC Ensembl
Innerchr8:131005345..131031827hg19UCSC Ensembl
Innerchr8:131074527..131101009hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3826483
hg1926483
hg1826483
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1121158, nssv1121159
Samples
Known GenesFAM49B, MIR5194
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612233
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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