A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6069048



Internal ID21978281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:85483868..85483868hg38UCSC Ensembl
chr6:86193586..86193586hg19UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg38201
hg19201
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17576272
Samples
Known GenesNT5E
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6069048
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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