A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6050683



Internal ID21959916
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 StatusM
Merged Variants
Supporting Variantsnssv17533093
Samples
Known GenesCTTNBP2NL
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6050683
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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