A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16896683



Internal ID171930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215634258..215634309hg38UCSC Ensembl
chr1:215807600..215807651hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5411817
Supporting Variants
Samples
Known GenesUSH2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16896683
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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