A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17857005



Internal ID22040648
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 StatusS
Merged Variantsnsv6260411
Supporting Variants
Samples
Known GenesKIF2A
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17857005
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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