A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2290592



Internal ID17424819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:101576002..101578566hg38UCSC Ensembl
Innerchr3:101294846..101297410hg19UCSC Ensembl
Innerchr3:102777536..102780100hg18UCSC Ensembl
Cytoband3q12.3
Allele length
AssemblyAllele length
hg382565
hg192565
hg182565
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965193
Supporting Variants
SamplesHGDP00542
Known GenesPCNP
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)nssv2290592
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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