A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2478643



Internal ID17780717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:133034606..133036106hg38UCSC Ensembl
Innerchr7:132719366..132720866hg19UCSC Ensembl
Innerchr7:132369906..132371406hg18UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg381501
hg191501
hg181501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981582
Supporting Variants
SamplesHGDP00665
Known GenesCHCHD3
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)nssv2478643
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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