A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2291409



Internal ID17748840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:109467888..109471882hg38UCSC Ensembl
Innerchr3:109186735..109190729hg19UCSC Ensembl
Innerchr3:110669425..110673419hg18UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg383995
hg193995
hg183995
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979865
Supporting Variants
SamplesHGDP00521
Known GenesFLJ25363
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)nssv2291409
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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