A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1979868



Internal ID17534212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:21351643..21352731hg38UCSC Ensembl
Innerchr14:21819802..21820890hg19UCSC Ensembl
Innerchr14:20889642..20890730hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg381089
hg191089
hg181089
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv976317
Supporting Variants
SamplesHGDP01307
Known GenesSUPT16H
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1979868
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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