A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2337299



Internal ID17848302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:145133170..145138740hg38UCSC Ensembl
Innerchr4:146054322..146059892hg19UCSC Ensembl
Innerchr4:146273772..146279342hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg385571
hg195571
hg185571
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966326
Supporting Variants
SamplesHGDP01029
Known GenesOTUD4
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)nssv2337299
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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