A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18125684



Internal ID20692724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:116196255..116275004hg38UCSC Ensembl
chr5:115531952..115610701hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3878750
hg1978750
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6400020
Supporting Variants
Samples
Known GenesCOMMD10
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18125684
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00038


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