A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2478030



Internal ID17812399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:134585315..134601314hg38UCSC Ensembl
Innerchr7:134270067..134286066hg19UCSC Ensembl
Innerchr7:133920607..133936606hg18UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg3816000
hg1916000
hg1816000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981585
Supporting Variants
SamplesHGDP00927
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)nssv2478030
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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