A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5918107



Internal ID22693328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:75033788..75047684hg38UCSC Ensembl
chr8:75946023..75959919hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg3813897
hg1913897
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17432478
Samples
Known GenesCRISPLD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5918107
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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