A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2280146



Internal ID17727622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:45155221..45160793hg38UCSC Ensembl
Innerchr3:45196713..45202285hg19UCSC Ensembl
Innerchr3:45171717..45177289hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg385573
hg195573
hg185573
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963315
Supporting Variants
SamplesHGDP00456
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)nssv2280146
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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