A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713213



Internal ID136879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41855796..41856116hg38UCSC Ensembl
chr17:40012048..40012368hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5514433
Supporting Variants
Samples
Known GenesKLHL11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713213
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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