A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2011330



Internal ID17731692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:28270446..28273285hg38UCSC Ensembl
Innerchr15:28515592..28518431hg19UCSC Ensembl
Innerchr15:26189187..26192026hg18UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg382840
hg192840
hg182840
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv984036
Supporting Variants
SamplesHGDP00456
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)nssv2011330
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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