A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5914119



Internal ID22689335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:69081599..69085551hg38UCSC Ensembl
chr8:69993834..69997786hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg383953
hg193953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17448379
Samples
Known GenesLOC100505718
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5914119
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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