A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6081930



Internal ID21991163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:100171090..100171090hg38UCSC Ensembl
chr10:101930847..101930847hg19UCSC Ensembl
Cytoband10q24.31
Allele length
AssemblyAllele length
hg382580
hg192580
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17587188
Samples
Known GenesERLIN1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6081930
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