A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16907250



Internal ID5619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70887124..70900746hg38UCSC Ensembl
chr1:71352807..71366429hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3813623
hg1913623
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5424774
Supporting Variants
Samples
Known GenesPTGER3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16907250
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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