A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557650



Internal ID16345059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:17243721..17272641hg38UCSC Ensembl
Innerchr12:17396655..17425575hg19UCSC Ensembl
Innerchr12:17287922..17316842hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3828921
hg1928921
hg1828921
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv789415
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557650
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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