A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2007232



Internal ID17784450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:23322567..23398747hg38UCSC Ensembl
Innerchr15:23567708..23643894hg19UCSC Ensembl
Innerchr15:21119149..21195335hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg3876181
hg1976187
hg1876187
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv984019
Supporting Variants
SamplesHGDP00665
Known GenesGOLGA8S, LOC440243
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)nssv2007232
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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