A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526196



Internal ID15453489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:60681010..60965064hg38UCSC Ensembl
Innerchr8:61593569..61877623hg19UCSC Ensembl
Innerchr8:61756123..62040177hg18UCSC Ensembl
Innerchr8:61756123..62040177hg17UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38284055
hg19284055
hg18284055
hg17284055
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv702458
Samples
Known GenesCHD7
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv526196
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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