A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2284952



Internal ID17750930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:66636487..66641651hg38UCSC Ensembl
Innerchr3:66686911..66692075hg19UCSC Ensembl
Innerchr3:66769601..66774765hg18UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg385165
hg195165
hg185165
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965172
Supporting Variants
SamplesHGDP00521
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)nssv2284952
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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