A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2458982



Internal ID17851159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:66452512..66467093hg38UCSC Ensembl
Innerchr7:65917499..65932080hg19UCSC Ensembl
Innerchr7:65554934..65569515hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3814582
hg1914582
hg1814582
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966833
Supporting Variants
SamplesHGDP01029
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)nssv2458982
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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