A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5971449



Internal ID22746384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62166667..62166667hg38UCSC Ensembl
chr20:60741723..60741723hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17404201
Samples
Known GenesSS18L1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5971449
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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