A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18125931



Internal ID20692971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:148362931..148370375hg38UCSC Ensembl
chr5:147742494..147749938hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg387445
hg197445
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6399500
Supporting Variants
Samples
Known GenesLOC102546294
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18125931
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00051


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