A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2459448



Internal ID17819217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:66570232..66591623hg38UCSC Ensembl
Innerchr7:66035219..66056610hg19UCSC Ensembl
Innerchr7:65672654..65694045hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3821392
hg1921392
hg1821392
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970868
Supporting Variants
SamplesHGDP00927
Known GenesLOC493754
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)nssv2459448
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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