A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2479473



Internal ID17739901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:134442219..134442914hg38UCSC Ensembl
Innerchr7:134126971..134127666hg19UCSC Ensembl
Innerchr7:133777511..133778206hg18UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38696
hg19696
hg18696
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970943
Supporting Variants
SamplesHGDP00456
Known GenesAKR1B1
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)nssv2479473
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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