A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv609509



Internal ID16050232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:1352944..1641722hg38UCSC Ensembl
Innerchr8:1301110..1589888hg19UCSC Ensembl
Innerchr8:1288517..1577295hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38288779
hg19288779
hg18288779
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1103591
Samples
Known GenesDLGAP2, LOC100507435
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv609509
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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