A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2296565



Internal ID17851030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:129487180..129500069hg38UCSC Ensembl
Innerchr3:129206023..129218912hg19UCSC Ensembl
Innerchr3:130688713..130701602hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3812890
hg1912890
hg1812890
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979878
Supporting Variants
SamplesHGDP01029
Known GenesIFT122
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)nssv2296565
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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