A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6245004



Internal ID22049614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:154350808..154350808hg38UCSC Ensembl
chr5:153730368..153730368hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17858618
Samples
Known GenesGALNT10
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6245004
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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