A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18053465



Internal ID20620505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:158844018..158853440hg38UCSC Ensembl
chr1:158813808..158823230hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg389423
hg199423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6328054
Supporting Variants
Samples
Known GenesMNDA
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18053465
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00023


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