A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558589



Internal ID15999312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:39274059..39374554hg38UCSC Ensembl
Innerchr12:39667861..39768356hg19UCSC Ensembl
Innerchr12:37954128..38054623hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38100496
hg19100496
hg18100496
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv793665
Samples
Known GenesKIF21A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558589
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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