A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6083155



Internal ID21992388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32276892..32276892hg38UCSC Ensembl
chr17:30603911..30603911hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17633031
Samples
Known GenesRHBDL3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6083155
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