A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2030687



Internal ID17441098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:74046885..74121313hg38UCSC Ensembl
Innerchr15:74339226..74413654hg19UCSC Ensembl
Innerchr15:72126279..72200707hg18UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg3874429
hg1974429
hg1874429
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974597
Supporting Variants
SamplesHGDP00665
Known GenesGOLGA6A, PML
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)nssv2030687
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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