A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2277807



Internal ID17504376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:32635237..32639861hg38UCSC Ensembl
Innerchr3:32676729..32681353hg19UCSC Ensembl
Innerchr3:32651733..32656357hg18UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg384625
hg194625
hg184625
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979817
Supporting Variants
SamplesHGDP01029
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)nssv2277807
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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