A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17117422



Internal ID21421843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62349799..62349799hg38UCSC Ensembl
chr20:60924855..60924855hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381054
hg191054
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5669900
Supporting Variants
SamplesHG00731
Known GenesLAMA5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17117422
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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