A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2297619



Internal ID17753976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:141599371..141600476hg38UCSC Ensembl
Innerchr3:141318213..141319318hg19UCSC Ensembl
Innerchr3:142800903..142802008hg18UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg381106
hg191106
hg181106
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979885
Supporting Variants
SamplesHGDP00521
Known GenesRASA2
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)nssv2297619
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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