A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444555



Internal ID222925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:166396871..166422764hg38UCSC Ensembl
chr2:167253381..167279274hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3825894
hg1925894
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16921472
Samples
Known GenesSCN7A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444555
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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