A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2012134



Internal ID17733064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:25093662..25094162hg38UCSC Ensembl
Innerchr15:25338809..25339309hg19UCSC Ensembl
Innerchr15:22889902..22890402hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv984029
Supporting Variants
SamplesHGDP00456
Known GenesSNORD116-24
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)nssv2012134
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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