A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv804346



Internal ID15751616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:128810336..128840393hg38UCSC Ensembl
Innerchr12:129294881..129324938hg19UCSC Ensembl
Innerchr12:127860834..127890891hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3830058
hg1930058
hg1830058
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560688
Supporting Variants
Samples
Known GenesSLC15A4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv804346
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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