A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5474943



Internal ID252591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:70671336..70672408hg38UCSC Ensembl
chr8:71583571..71584643hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg381073
hg191073
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17012982
Samples
Known GenesXKR9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5474943
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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