A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612498



Internal ID16399907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:137425627..137550168hg38UCSC Ensembl
Innerchr8:138437870..138562411hg19UCSC Ensembl
Innerchr8:138507052..138631593hg18UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38124542
hg19124542
hg18124542
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1156204
Samples1780862595_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612498
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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