A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1992545



Internal ID17848420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:77682363..77684014hg38UCSC Ensembl
Innerchr14:78148706..78150357hg19UCSC Ensembl
Innerchr14:77218459..77220110hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381652
hg191652
hg181652
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976357
Supporting Variants
SamplesHGDP01029
Known GenesALKBH1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1992545
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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