A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540563



Internal ID315309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:12099768..12099818hg38UCSC Ensembl
chr6:12100001..12100051hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg38264
hg19264
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16978165
Samples
Known GenesHIVEP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540563
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