A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2031643



Internal ID17727966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:73161440..73163440hg38UCSC Ensembl
Innerchr15:73453781..73455781hg19UCSC Ensembl
Innerchr15:71240834..71242834hg18UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg382001
hg192001
hg182001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977734
Supporting Variants
SamplesHGDP00456
Known GenesNEO1
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)nssv2031643
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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