A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612315



Internal ID16399724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:130839439..130842946hg38UCSC Ensembl
Innerchr8:131851685..131855192hg19UCSC Ensembl
Innerchr8:131920867..131924374hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg383508
hg193508
hg183508
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12334n54
Supporting Variantsnssv1121512
Samples
Known GenesADCY8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612315
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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