A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1947241



Internal ID17434078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:122768727..122771494hg38UCSC Ensembl
Innerchr12:123253274..123256041hg19UCSC Ensembl
Innerchr12:121819227..121821994hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382768
hg192768
hg182768
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975535
Supporting Variants
SamplesHGDP00665
Known GenesDENR
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)nssv1947241
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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