A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv805364



Internal ID15752634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131701185..131720563hg38UCSC Ensembl
Innerchr12:132185730..132205108hg19UCSC Ensembl
Innerchr12:130751683..130771061hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3819379
hg1919379
hg1819379
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560917
Supporting Variants
Samples
Known GenesSFSWAP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv805364
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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