A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16974545



Internal ID50405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137668870..137669510hg38UCSC Ensembl
chr5:137004559..137005199hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38641
hg19641
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5466706
Supporting Variants
Samples
Known GenesKLHL3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16974545
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002185


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