A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2287189



Internal ID17805225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:86012347..86015853hg38UCSC Ensembl
Innerchr3:86061497..86065003hg19UCSC Ensembl
Innerchr3:86144187..86147693hg18UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg383507
hg193507
hg183507
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979853
Supporting Variants
SamplesHGDP00778
Known GenesCADM2
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)nssv2287189
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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