A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1991298



Internal ID17770425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73552567..73555640hg38UCSC Ensembl
Innerchr14:74019271..74022344hg19UCSC Ensembl
Innerchr14:73089024..73092097hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg383074
hg193074
hg183074
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983843
Supporting Variants
SamplesHGDP00542
Known GenesHEATR4
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)nssv1991298
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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