A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424160



Internal ID203160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:88541647..88541698hg38UCSC Ensembl
chr12:88935424..88935475hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684021
Samples
Known GenesKITLG
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424160
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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