A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2017627



Internal ID17436944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:34793028..34793618hg38UCSC Ensembl
Innerchr15:35085229..35085819hg19UCSC Ensembl
Innerchr15:32872521..32873111hg18UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38591
hg19591
hg18591
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977697
Supporting Variants
SamplesHGDP00665
Known GenesACTC1
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)nssv2017627
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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