A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518746



Internal ID15446039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:49477181..49530854hg38UCSC Ensembl
Innerchr12:49870964..49924637hg19UCSC Ensembl
Innerchr12:48157231..48210904hg18UCSC Ensembl
Innerchr12:48157231..48210904hg17UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3853674
hg1953674
hg1853674
hg1753674
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696195
Samples
Known GenesSPATS2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518746
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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