A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18195142



Internal ID20762182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:92071161..92077616hg38UCSC Ensembl
chr9:94833443..94839898hg19UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg386456
hg196456
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6449579
Supporting Variants
Samples
Known GenesSPTLC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18195142
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00025


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