A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5456492



Internal ID234555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:20339047..20339845hg38UCSC Ensembl
chr7:20378670..20379468hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg38799
hg19799
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16994859
Samples
Known GenesITGB8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5456492
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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