A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16902847



Internal ID2708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:57804335..57807390hg38UCSC Ensembl
chr1:58270007..58273062hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg383056
hg193056
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5433096
Supporting Variants
Samples
Known GenesDAB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16902847
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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