A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18037507



Internal ID20604547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75222787..75224584hg38UCSC Ensembl
chr17:73218882..73220679hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381798
hg191798
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6534006
Supporting Variants
Samples
Known GenesNUP85
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18037507
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00029


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