A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1937295



Internal ID17810798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:66234062..66234654hg38UCSC Ensembl
Innerchr12:66627842..66628434hg19UCSC Ensembl
Innerchr12:64914109..64914701hg18UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg38593
hg19593
hg18593
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv976637
Supporting Variants
SamplesHGDP00927
Known GenesIRAK3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1937295
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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