A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516056



Internal ID15096663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:49768512..49838635hg38UCSC Ensembl
Innerchr18:47294882..47365005hg19UCSC Ensembl
Innerchr18:45548880..45619003hg18UCSC Ensembl
Innerchr18:45548880..45619003hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3870124
hg1970124
hg1870124
hg1770124
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv685664, nssv665900, nssv680967, nssv663647
Samples
Known GenesACAA2, MYO5B, SCARNA17
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516056
Frequency
Sample Size2026
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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