A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5399560



Internal ID178948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101294230..101294281hg38UCSC Ensembl
chr2:101910692..101910743hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16917032
Samples
Known GenesRNF149
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5399560
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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