A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2479007



Internal ID17880729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:135444505..135445505hg38UCSC Ensembl
Innerchr7:135129253..135130253hg19UCSC Ensembl
Innerchr7:134779793..134780793hg18UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970944
Supporting Variants
SamplesHGDP01307
Known GenesCNOT4
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)nssv2479007
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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