A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612325



Internal ID16053048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:131918447..132338873hg38UCSC Ensembl
Innerchr8:132930694..133351120hg19UCSC Ensembl
Innerchr8:132999876..133420302hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38420427
hg19420427
hg18420427
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1121517
Samples
Known GenesEFR3A, HHLA1, KCNQ3, OC90
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612325
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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