A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518599



Internal ID15099206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:23986428..23986824hg38UCSC Ensembl
Innerchr12:24139362..24139758hg19UCSC Ensembl
Innerchr12:24030629..24031025hg18UCSC Ensembl
Innerchr12:24030629..24031025hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38397
hg19397
hg18397
hg17397
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694252
Samples
Known GenesSOX5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518599
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