A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16921245



Internal ID14938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:179488939..179488990hg38UCSC Ensembl
chr2:180353666..180353717hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5412589
Supporting Variants
Samples
Known GenesZNF385B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16921245
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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