A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2613953



Internal ID17539127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:48016980..48019775hg38UCSC Ensembl
Innerchr10:49224996..49227790hg19UCSC Ensembl
Innerchr10:48895002..48897796hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg382796
hg192795
hg182795
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975693
Supporting Variants
SamplesHGDP01307
Known GenesCTGLF12P
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2613953
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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