A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1997448



Internal ID17422717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:100277697..100278585hg38UCSC Ensembl
Innerchr14:100744034..100744922hg19UCSC Ensembl
Innerchr14:99813787..99814675hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38889
hg19889
hg18889
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983854
Supporting Variants
SamplesHGDP00542
Known GenesYY1
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)nssv1997448
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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