A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16903797



Internal ID3349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:57976148..57976199hg38UCSC Ensembl
chr1:58441820..58441871hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5407473
Supporting Variants
Samples
Known GenesDAB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16903797
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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