A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5397053



Internal ID176463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:63032928..63032979hg38UCSC Ensembl
chr8:63945487..63945538hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17012899
Samples
Known GenesGGH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5397053
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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