A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1937814



Internal ID17745740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:70671627..70672723hg38UCSC Ensembl
Innerchr12:71065407..71066503hg19UCSC Ensembl
Innerchr12:69351674..69352770hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg381097
hg191097
hg181097
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983347
Supporting Variants
SamplesHGDP00521
Known GenesPTPRR
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)nssv1937814
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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