A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1982004



Internal ID17804385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:34568794..34575825hg38UCSC Ensembl
Innerchr14:35038000..35045031hg19UCSC Ensembl
Innerchr14:34107751..34114782hg18UCSC Ensembl
Cytoband14q13.1
Allele length
AssemblyAllele length
hg387032
hg197032
hg187032
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977453
Supporting Variants
SamplesHGDP00778
Known GenesSNX6
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)nssv1982004
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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