A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5920944



Internal ID22696167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:75277945..75280265hg38UCSC Ensembl
chr8:76190180..76192500hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg382321
hg192321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17436006
Samples
Known GenesCASC9
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5920944
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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