A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438464



Internal ID217028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:165252766..165253682hg38UCSC Ensembl
chr2:166109276..166110192hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38917
hg19917
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16920957
Samples
Known GenesSCN2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438464
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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