A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv787313



Internal ID16081269
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 StatusS
Merged Variantsnsv557290
Supporting Variants
Samples
Known GenesSLC2A14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv787313
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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