A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518178



Internal ID15445471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:57416076..57630321hg38UCSC Ensembl
Innerchr8:58328635..58542880hg19UCSC Ensembl
Innerchr8:58491189..58705434hg18UCSC Ensembl
Innerchr8:58491189..58705434hg17UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38214246
hg19214246
hg18214246
hg17214246
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv460n21
Supporting Variantsnssv695598
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518178
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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