A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612291



Internal ID16399700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:130358038..130358688hg38UCSC Ensembl
Innerchr8:131370284..131370934hg19UCSC Ensembl
Innerchr8:131439466..131440116hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38651
hg19651
hg18651
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12331n54
Supporting Variantsnssv1121327
Samples
Known GenesASAP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612291
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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