A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555986



Internal ID329134
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 StatusM
Merged Variants
Supporting Variantsnssv16968292
Samples
Known GenesCENPK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555986
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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