A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713550



Internal ID137216
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 StatusS
Merged Variantsnsv5546426
Supporting Variants
Samples
Known GenesSKAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713550
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.010822


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