A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5490073



Internal ID267336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6538704..6539500hg38UCSC Ensembl
chr8:6396225..6397021hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38797
hg19797
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17006676
Samples
Known GenesANGPT2, MCPH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5490073
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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