A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17533093



Internal ID21857449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112449372..112449372hg38UCSC Ensembl
chr1:112991994..112991994hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38303
hg19303
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6050683
Supporting Variants
Samples
Known GenesCTTNBP2NL
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17533093
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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