A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2301556



Internal ID17540294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:150628026..150630512hg38UCSC Ensembl
Innerchr3:150345813..150348299hg19UCSC Ensembl
Innerchr3:151828503..151830989hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg382487
hg192487
hg182487
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963367
Supporting Variants
SamplesHGDP01307
Known GenesSELT
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)nssv2301556
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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