A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2012581



Internal ID17866296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:28312772..28316631hg38UCSC Ensembl
Innerchr15:28557918..28561777hg19UCSC Ensembl
Innerchr15:26231513..26235372hg18UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg383860
hg193860
hg183860
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974538
Supporting Variants
SamplesHGDP01284
Known GenesHERC2
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)nssv2012581
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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