A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560686



Internal ID16001409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:128794719..128847110hg38UCSC Ensembl
Innerchr12:129279264..129331655hg19UCSC Ensembl
Innerchr12:127845217..127897608hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3852392
hg1952392
hg1852392
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2963n54
Supporting Variantsnssv804344
Samples
Known GenesSLC15A4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560686
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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