A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3502819



Internal ID18801100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11340230..11428828hg38UCSC Ensembl
Innerchr12:11493164..11581762hg19UCSC Ensembl
Innerchr12:11384431..11473029hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3888599
hg1988599
hg1888599
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1036331
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)nssv3502819
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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