A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16907011



Internal ID5457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:96758940..96760562hg38UCSC Ensembl
chr1:97224496..97226118hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg381623
hg191623
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5422054
Supporting Variants
Samples
Known GenesPTBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16907011
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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