A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559846



Internal ID16000569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:96194267..96194815hg38UCSC Ensembl
Innerchr12:96588045..96588593hg19UCSC Ensembl
Innerchr12:95112176..95112724hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38549
hg19549
hg18549
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv800860
Samples
Known GenesELK3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559846
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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