A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443895



Internal ID222279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:166042588..166291128hg38UCSC Ensembl
chr2:166899098..167147638hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38248541
hg19248541
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16921798
Samples
Known GenesSCN1A, SCN9A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443895
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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