A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1996633



Internal ID17817024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:94800648..94806683hg38UCSC Ensembl
Innerchr14:95266985..95273020hg19UCSC Ensembl
Innerchr14:94336738..94342773hg18UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg386036
hg196036
hg186036
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976367
Supporting Variants
SamplesHGDP00927
Known Genes
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)nssv1996633
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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