A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521971



Internal ID8416246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:72374083..72386397hg38UCSC Ensembl
Innerchr15:72666424..72678738hg19UCSC Ensembl
Innerchr15:70453478..70465792hg18UCSC Ensembl
Innerchr15:70453478..70465792hg17UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg3812315
hg1912315
hg1812315
hg1712315
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694740
Samples
Known GenesHEXA, HEXA-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521971
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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