A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16907019



Internal ID5460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:96804437..96804475hg38UCSC Ensembl
chr1:97269993..97270031hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5534269
Supporting Variants
Samples
Known GenesPTBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16907019
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.010927


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