A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5485472



Internal ID262861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:52301095..52301748hg38UCSC Ensembl
chr8:53213655..53214308hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38654
hg19654
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17011011
Samples
Known GenesST18
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5485472
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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