A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16917360



Internal ID12323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85596377..85596428hg38UCSC Ensembl
chr2:85823500..85823551hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5563643
Supporting Variants
Samples
Known GenesRNF181
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16917360
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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