A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1911968



Internal ID17812154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8133599..8135640hg38UCSC Ensembl
Innerchr12:8286195..8288236hg19UCSC Ensembl
Innerchr12:8177462..8179503hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg382042
hg192042
hg182042
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976563
Supporting Variants
SamplesHGDP00927
Known GenesCLEC4A, POU5F1P3
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)nssv1911968
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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