A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557639



Internal ID15998362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:16120616..16211950hg38UCSC Ensembl
Innerchr12:16273550..16364884hg19UCSC Ensembl
Innerchr12:16164817..16256151hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3891335
hg1991335
hg1891335
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv788984
Samples
Known GenesSLC15A5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557639
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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