A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527341



Internal ID15107948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:55679732..55895699hg38UCSC Ensembl
Innerchr8:56592291..56808258hg19UCSC Ensembl
Innerchr8:56754845..56970812hg18UCSC Ensembl
Innerchr8:56754845..56970812hg17UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38215968
hg19215968
hg18215968
hg17215968
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703767
Samples
Known GenesLYN, TGS1, TMEM68
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527341
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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