A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5521518



Internal ID297812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18007754..18013626hg38UCSC Ensembl
chr17:17911068..17916940hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg385873
hg195873
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711883
Samples
Known GenesLRRC48
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5521518
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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