A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557766



Internal ID15998489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:23781464..23793212hg38UCSC Ensembl
Innerchr12:23934398..23946146hg19UCSC Ensembl
Innerchr12:23825665..23837413hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3811749
hg1911749
hg1811749
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2411n54
Supporting Variantsnssv789591
Samples
Known GenesSOX5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557766
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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