A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18133328



Internal ID20700368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69249514..69251267hg38UCSC Ensembl
chr5:68545341..68547094hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381754
hg191754
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6403587
Supporting Variants
Samples
Known GenesCDK7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18133328
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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