A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5962032



Internal ID22736972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:83050824..83050824hg38UCSC Ensembl
chr6:83760543..83760543hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17438703
Samples
Known GenesUBE3D
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5962032
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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