A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5546426



Internal ID320378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48233523..48233523hg38UCSC Ensembl
chr17:46310885..46310885hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713550
Samples
Known GenesSKAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5546426
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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