A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550506



Internal ID324054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:11801292..11801329hg38UCSC Ensembl
chr6:11801525..11801562hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16978130
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550506
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