A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1175423



Internal ID15881103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11341087..11422636hg38UCSC Ensembl
Innerchr12:11494021..11575570hg19UCSC Ensembl
Innerchr12:11385288..11466837hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3881550
hg1981550
hg1881550
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557533
Supporting Variants
SamplesNINDS_69
Known GenesPRB1, PRB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1175423
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