A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576863



Internal ID16017586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:49569117..49938639hg38UCSC Ensembl
Innerchr18:47095487..47465009hg19UCSC Ensembl
Innerchr18:45349485..45719007hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38369523
hg19369523
hg18369523
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv882825
Samples
Known GenesACAA2, LIPG, MYO5B, SCARNA17
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576863
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer