A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5917545



Internal ID22692764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:79629513..79635687hg38UCSC Ensembl
chr8:80541748..80547922hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg386175
hg196175
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17439599
Samples
Known GenesSTMN2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5917545
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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