A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16901380



Internal ID1734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:33018779..33018830hg38UCSC Ensembl
chr1:33484380..33484431hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5401192
Supporting Variants
Samples
Known GenesAK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16901380
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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