A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2302248



Internal ID17822002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:158275336..158276445hg38UCSC Ensembl
Innerchr3:157993125..157994234hg19UCSC Ensembl
Innerchr3:159475819..159476928hg18UCSC Ensembl
Cytoband3q25.32
Allele length
AssemblyAllele length
hg381110
hg191110
hg181110
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965227
Supporting Variants
SamplesHGDP00927
Known GenesRSRC1
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)nssv2302248
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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