A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5479007



Internal ID256547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:103516594..103670156hg38UCSC Ensembl
chr8:104528822..104682384hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38153563
hg19153563
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17014309
Samples
Known GenesRIMS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5479007
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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