A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1864070



Internal ID17449133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:97429563..97433338hg38UCSC Ensembl
Innerchr10:99189320..99193095hg19UCSC Ensembl
Innerchr10:99179310..99183085hg18UCSC Ensembl
Cytoband10q24.1
Allele length
AssemblyAllele length
hg383776
hg193776
hg183776
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv948158
Supporting Variants
SamplesHGDP00778
Known GenesPGAM1
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)nssv1864070
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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