A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2207034



Internal ID17454481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:151801527..151803208hg38UCSC Ensembl
Innerchr2:152658041..152659722hg19UCSC Ensembl
Innerchr2:152366287..152367968hg18UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg381682
hg191682
hg181682
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979136
Supporting Variants
SamplesHGDP00778
Known GenesARL5A
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)nssv2207034
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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