A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2300120



Internal ID17404688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:154023096..154025496hg38UCSC Ensembl
Innerchr3:153740885..153743285hg19UCSC Ensembl
Innerchr3:155223575..155225975hg18UCSC Ensembl
Cytoband3q25.2
Allele length
AssemblyAllele length
hg382401
hg192401
hg182401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965223
Supporting Variants
SamplesHGDP00521
Known GenesARHGEF26-AS1
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)nssv2300120
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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