A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1992658



Internal ID17419191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:80820953..80825707hg38UCSC Ensembl
Innerchr14:81287297..81292051hg19UCSC Ensembl
Innerchr14:80357050..80361804hg18UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg384755
hg194755
hg184755
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976358
Supporting Variants
SamplesHGDP00542
Known GenesCEP128
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)nssv1992658
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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