A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047747



Internal ID18790278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:112917435..113003116hg38UCSC Ensembl
Innerchr12:113355240..113440921hg19UCSC Ensembl
Innerchr12:111839623..111925304hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3885682
hg1985682
hg1885682
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3712605
Samples
Known GenesOAS1, OAS2, OAS3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047747
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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