A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1987299



Internal ID17405970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:52727394..52728184hg38UCSC Ensembl
Innerchr14:53194112..53194902hg19UCSC Ensembl
Innerchr14:52263862..52264652hg18UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38791
hg19791
hg18791
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983825
Supporting Variants
SamplesHGDP00521
Known GenesPSMC6
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)nssv1987299
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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