A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16285320



Internal ID20494538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:96804430..96804430hg38UCSC Ensembl
chr1:97269986..97269986hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4765566
Supporting Variants
Samples
Known GenesPTBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16285320
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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