A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1871028



Internal ID17449463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:130130866..130133029hg38UCSC Ensembl
Innerchr10:131929130..131931293hg19UCSC Ensembl
Innerchr10:131819120..131821283hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg382164
hg192164
hg182164
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv948228
Supporting Variants
SamplesHGDP00778
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)nssv1871028
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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