A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434849



Internal ID213515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:160377262..160377333hg38UCSC Ensembl
chr2:161233773..161233844hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16921675
Samples
Known GenesRBMS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434849
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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