A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5412044



Internal ID191348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206555568..206555619hg38UCSC Ensembl
chr2:207420292..207420343hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38218
hg19218
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16923022
Samples
Known GenesADAM23
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5412044
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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