A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5546212



Internal ID320186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:133831519..133831519hg38UCSC Ensembl
chr6:134152657..134152657hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38515
hg19515
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16969539
Samples
Known GenesMGC34034
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5546212
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