A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6260411



Internal ID22065021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:62315214..62315214hg38UCSC Ensembl
chr5:61611041..61611041hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38193
hg19193
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17857005
Samples
Known GenesKIF2A
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6260411
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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