A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2333892



Internal ID17882530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:117574562..117575841hg38UCSC Ensembl
Innerchr4:118495717..118496996hg19UCSC Ensembl
Innerchr4:118715165..118716444hg18UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg381280
hg191280
hg181280
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv966313
Supporting Variants
SamplesHGDP01307
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2333892
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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