A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5940762



Internal ID22716175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89545516..89545605hg38UCSC Ensembl
chr16:89611924..89612013hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17376310
Samples
Known GenesSPG7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5940762
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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