A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514268



Internal ID290767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41858129..41862812hg38UCSC Ensembl
chr17:40014381..40019065hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg384684
hg194685
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713214
Samples
Known GenesKLHL11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514268
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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