A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2288435



Internal ID17861358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:97479780..97481476hg38UCSC Ensembl
Innerchr3:97198624..97200320hg19UCSC Ensembl
Innerchr3:98681314..98683010hg18UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg381697
hg191697
hg181697
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965190
Supporting Variants
SamplesHGDP01284
Known GenesEPHA6
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)nssv2288435
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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