A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557290



Internal ID16344699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7847740..7918219hg38UCSC Ensembl
Innerchr12:8000336..8070815hg19UCSC Ensembl
Innerchr12:7891603..7962082hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3870480
hg1970480
hg1870480
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2333n54
Supporting Variantsnssv787313
Samples
Known GenesSLC2A14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557290
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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