A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17407727



Internal ID22465597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53536747..53536747hg38UCSC Ensembl
chr20:52153286..52153286hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5976754
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17407727
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