A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv795826



Internal ID15743096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:50056193..50130181hg38UCSC Ensembl
Innerchr12:50449976..50523964hg19UCSC Ensembl
Innerchr12:48736243..48810231hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3873989
hg1973989
hg1873989
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv558840
Supporting Variants
Samples
Known GenesASIC1, CERS5, COX14, GPD1, SMARCD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv795826
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