A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540881



Internal ID315572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:169993636..169993687hg38UCSC Ensembl
chr1:169962777..169962828hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892165
Samples
Known GenesKIFAP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540881
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer