A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5908023



Internal ID22683233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47989038..47998843hg38UCSC Ensembl
chr8:48901598..48911403hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg389806
hg199806
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17446707
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5908023
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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