A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1938240



Internal ID17399794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:68551913..68557469hg38UCSC Ensembl
Innerchr12:68945693..68951249hg19UCSC Ensembl
Innerchr12:67231960..67237516hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg385557
hg195557
hg185557
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976640
Supporting Variants
SamplesHGDP00521
Known Genes
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)nssv1938240
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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