A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5492532



Internal ID269742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:112875270..112904132hg38UCSC Ensembl
chr8:113887499..113916361hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3828863
hg1928863
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv513n206
Supporting Variantsnssv17016912
Samples
Known GenesCSMD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5492532
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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