A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16922210



Internal ID15567
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 StatusS
Merged Variantsnsv5552499
Supporting Variants
Samples
Known GenesMYO3B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16922210
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002654


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