A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5963319



Internal ID22738254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:23307953..23307953hg38UCSC Ensembl
chr8:23165466..23165466hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38192
hg19192
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17434563
Samples
Known GenesLOXL2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5963319
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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