A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1847780



Internal ID17464824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:47992286..48064367hg38UCSC Ensembl
Innerchr10:49200323..49272407hg19UCSC Ensembl
Innerchr10:48870329..48942413hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3872082
hg1972085
hg1872085
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv947974
Supporting Variants
SamplesHGDP00927
Known GenesCTGLF12P, FAM25C, FAM25G
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)nssv1847780
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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