A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18123587



Internal ID20690627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:118841318..118841702hg38UCSC Ensembl
chr5:118177013..118177397hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38385
hg19385
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6397519
Supporting Variants
Samples
Known GenesDTWD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18123587
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00072


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