A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049296



Internal ID18791827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:105124986..105172301hg38UCSC Ensembl
Innerchr12:105518764..105566079hg19UCSC Ensembl
Innerchr12:104042894..104090209hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3847316
hg1947316
hg1847316
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524871
Samples
Known GenesKIAA1033
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049296
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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