A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2285802



Internal ID17785666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:76434109..76436604hg38UCSC Ensembl
Innerchr3:76483260..76485755hg19UCSC Ensembl
Innerchr3:76565950..76568445hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg382496
hg192496
hg182496
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979848
Supporting Variants
SamplesHGDP00665
Known Genes
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)nssv2285802
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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