A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2332121



Internal ID17752237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:110398772..110400423hg38UCSC Ensembl
Innerchr4:111319928..111321579hg19UCSC Ensembl
Innerchr4:111539377..111541028hg18UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg381652
hg191652
hg181652
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966308
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)nssv2332121
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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