A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17484388



Internal ID22542296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123729422..123739152hg38UCSC Ensembl
chr3:123448269..123457999hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg389731
hg199731
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5834309
Supporting Variants
Samples
Known GenesMYLK
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17484388
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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