A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6256436



Internal ID22061046
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 StatusM
Merged Variants
Supporting Variantsnssv17856430
Samples
Known GenesKCND3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6256436
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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