A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2037324



Internal ID17822474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:89134853..89136634hg38UCSC Ensembl
Innerchr15:89678084..89679865hg19UCSC Ensembl
Innerchr15:87479088..87480869hg18UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg381782
hg191782
hg181782
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977755
Supporting Variants
SamplesHGDP00927
Known GenesABHD2
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)nssv2037324
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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