A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv796288



Internal ID15743558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:55723786..55727150hg38UCSC Ensembl
Innerchr12:56117570..56120934hg19UCSC Ensembl
Innerchr12:54403837..54407201hg18UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg383365
hg193365
hg183365
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559005
Supporting Variants
Samples
Known GenesBLOC1S1-RDH5, CD63, RDH5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv796288
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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