A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5400012



Internal ID179396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:71200173..71200224hg38UCSC Ensembl
chr8:72112408..72112459hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17013032
Samples
Known GenesEYA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5400012
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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