A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16270570



Internal ID20479788
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 StatusS
Merged Variantsnsv4752294
Supporting Variants
Samples
Known GenesCTTNBP2NL
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16270570
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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