A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1997257



Internal ID17818590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:99965373..99966781hg38UCSC Ensembl
Innerchr14:100431710..100433118hg19UCSC Ensembl
Innerchr14:99501463..99502871hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg381409
hg191409
hg181409
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977504
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)nssv1997257
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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