A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2478919



Internal ID17814217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:135128713..135130444hg38UCSC Ensembl
Innerchr7:134813465..134815196hg19UCSC Ensembl
Innerchr7:134464005..134465736hg18UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg381732
hg191732
hg181732
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970581
Supporting Variants
SamplesHGDP00927
Known GenesAGBL3
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)nssv2478919
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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