A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2287796



Internal ID17859968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:93930326..93931605hg38UCSC Ensembl
Innerchr3:93649170..93650449hg19UCSC Ensembl
Innerchr3:95131860..95133139hg18UCSC Ensembl
Cytoband3q11.1
Allele length
AssemblyAllele length
hg381280
hg191280
hg181280
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965186
Supporting Variants
SamplesHGDP01284
Known GenesPROS1
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)nssv2287796
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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