A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2029268



Internal ID17884306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:71163690..71166029hg38UCSC Ensembl
Innerchr15:71456029..71458368hg19UCSC Ensembl
Innerchr15:69243083..69245422hg18UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg382340
hg192340
hg182340
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974595
Supporting Variants
SamplesHGDP01307
Known GenesTHSD4
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)nssv2029268
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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