A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2273579



Internal ID17833221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:32186231..32193084hg38UCSC Ensembl
Innerchr3:32227723..32234576hg19UCSC Ensembl
Innerchr3:32202727..32209580hg18UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg386854
hg196854
hg186854
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965152
Supporting Variants
SamplesHGDP00998
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)nssv2273579
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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