A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2297429



Internal ID17786626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:138101685..138103475hg38UCSC Ensembl
Innerchr3:137820527..137822317hg19UCSC Ensembl
Innerchr3:139303217..139305007hg18UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg381791
hg191791
hg181791
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979882
Supporting Variants
SamplesHGDP00665
Known GenesDZIP1L
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)nssv2297429
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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