A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5918715



Internal ID22693937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:84642205..84645540hg38UCSC Ensembl
chr8:85554440..85557775hg19UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg383336
hg193336
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17430386
Samples
Known GenesRALYL
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5918715
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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