A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2030133



Internal ID17819778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:72605116..72671461hg38UCSC Ensembl
Innerchr15:72897457..72963802hg19UCSC Ensembl
Innerchr15:70684511..70750855hg18UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg3866346
hg1966346
hg1866345
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977732
Supporting Variants
SamplesHGDP00927
Known GenesGOLGA6B
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)nssv2030133
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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