A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2330837



Internal ID17851126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:108786176..108789631hg38UCSC Ensembl
Innerchr4:109707332..109710787hg19UCSC Ensembl
Innerchr4:109926781..109930236hg18UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg383456
hg193456
hg183456
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980239
Supporting Variants
SamplesHGDP01029
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)nssv2330837
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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