A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17635720



Internal ID21827767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48288947..48288947hg38UCSC Ensembl
chr16:48322858..48322858hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6098995
Supporting Variants
Samples
Known GenesLONP2, MIR548AE2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17635720
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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