A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2285439



Internal ID17834667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:73919573..73922130hg38UCSC Ensembl
Innerchr3:73968724..73971281hg19UCSC Ensembl
Innerchr3:74051414..74053971hg18UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg382558
hg192558
hg182558
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv967023
Supporting Variants
SamplesHGDP00998
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2285439
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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