A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3708757



Internal ID19007038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11340230..11414977hg38UCSC Ensembl
Innerchr12:11493164..11567911hg19UCSC Ensembl
Innerchr12:11384431..11459178hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3874748
hg1974748
hg1874748
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1042253
Supporting Variants
Samples
Known GenesPRB1, PRB2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3708757
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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