A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2288794



Internal ID17767569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:94128483..94131519hg38UCSC Ensembl
Innerchr3:93847327..93850363hg19UCSC Ensembl
Innerchr3:95330017..95333053hg18UCSC Ensembl
Cytoband3q11.1
Allele length
AssemblyAllele length
hg383037
hg193037
hg183037
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967038
Supporting Variants
SamplesHGDP00542
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)nssv2288794
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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