A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17856430



Internal ID22040073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111971312..111971312hg38UCSC Ensembl
chr1:112513934..112513934hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6256436
Supporting Variants
Samples
Known GenesKCND3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17856430
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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