A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558895



Internal ID15999618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:51872564..51920604hg38UCSC Ensembl
Innerchr12:52266348..52314388hg19UCSC Ensembl
Innerchr12:50552615..50600655hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3848041
hg1948041
hg1848041
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv795963
Samples
Known GenesACVRL1, ANKRD33
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558895
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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