A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4752294



Internal ID20528154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112449378..112449378hg38UCSC Ensembl
chr1:112992000..112992000hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16270570
Samples
Known GenesCTTNBP2NL
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4752294
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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