A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv794071



Internal ID16088027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:42623723..42633809hg38UCSC Ensembl
Innerchr12:43017525..43027611hg19UCSC Ensembl
Innerchr12:41303792..41313878hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3810087
hg1910087
hg1810087
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv558709
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv794071
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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