A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559848



Internal ID16000571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:96194447..96195063hg38UCSC Ensembl
Innerchr12:96588225..96588841hg19UCSC Ensembl
Innerchr12:95112356..95112972hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38617
hg19617
hg18617
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv800862
Samples
Known GenesELK3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559848
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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