A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5402496



Internal ID181866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:162359986..162360037hg38UCSC Ensembl
chr2:163216496..163216547hg19UCSC Ensembl
Cytoband2q24.2
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 Variantsnssv16921396
Samples
Known GenesGCA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5402496
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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