A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5552499



Internal ID325847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:170627195..170627245hg38UCSC Ensembl
chr2:171483705..171483755hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922210
Samples
Known GenesMYO3B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5552499
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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