A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5490183



Internal ID267445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:39283587..39300008hg38UCSC Ensembl
chr8:39141106..39157527hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg3816422
hg1916422
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17009588
Samples
Known GenesADAM32
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5490183
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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