A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2338112



Internal ID17746367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:148526448..148527539hg38UCSC Ensembl
Innerchr4:149447600..149448691hg19UCSC Ensembl
Innerchr4:149667050..149668141hg18UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg381092
hg191092
hg181092
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964102
Supporting Variants
SamplesHGDP00521
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)nssv2338112
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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