A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043058



Internal ID18785589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99237441..99300785hg38UCSC Ensembl
Innerchr12:99631219..99694563hg19UCSC Ensembl
Innerchr12:98155350..98218694hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3863345
hg1963345
hg1863345
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524852
Samples
Known GenesANKS1B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043058
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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