A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16290735



Internal ID20499953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:46719015..46719015hg38UCSC Ensembl
chr13:47293150..47293150hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4765204
Supporting Variants
Samples
Known GenesLRCH1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16290735
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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