A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560916



Internal ID16001639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131701185..131719043hg38UCSC Ensembl
Innerchr12:132185730..132203588hg19UCSC Ensembl
Innerchr12:130751683..130769541hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3817859
hg1917859
hg1817859
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3007n54
Supporting Variantsnssv805363
Samples
Known GenesSFSWAP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560916
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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