A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4754162



Internal ID20530022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39183337..39183337hg38UCSC Ensembl
chr17:37339590..37339590hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16282049
Samples
Known GenesCACNB1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4754162
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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