A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5916194



Internal ID22691413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:90625862..90631550hg38UCSC Ensembl
chr8:91638090..91643778hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg385689
hg195689
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17438936
Samples
Known GenesTMEM64
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5916194
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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