A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2294629



Internal ID17854978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:124065199..124076027hg38UCSC Ensembl
Innerchr3:123784046..123794874hg19UCSC Ensembl
Innerchr3:125266736..125277564hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg3810829
hg1910829
hg1810829
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967056
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)nssv2294629
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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