A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17858419



Internal ID22042062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:96804437..96804437hg38UCSC Ensembl
chr1:97269993..97269993hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6244406
Supporting Variants
Samples
Known GenesPTBP2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17858419
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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