A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5538949



Internal ID313965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28258542..28258570hg38UCSC Ensembl
chr8:28116059..28116087hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17010138
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5538949
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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