A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16968292



Internal ID46180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:65525255..65525260hg38UCSC Ensembl
chr5:64821082..64821087hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38392
hg19392
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5555986
Supporting Variants
Samples
Known GenesCENPK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16968292
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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