A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv786917



Internal ID16080873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:5112845..5124361hg38UCSC Ensembl
Innerchr12:5222011..5233527hg19UCSC Ensembl
Innerchr12:5092272..5103788hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3811517
hg1911517
hg1811517
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557141
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)nssv786917
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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