A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1913565



Internal ID17793833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8459872..8461530hg38UCSC Ensembl
Innerchr12:8612468..8614126hg19UCSC Ensembl
Innerchr12:8503735..8505393hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381659
hg191659
hg181659
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973016
Supporting Variants
SamplesHGDP00778
Known GenesCLEC6A
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)nssv1913565
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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