A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17484386



Internal ID22542294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123714621..123736015hg38UCSC Ensembl
chr3:123433468..123454862hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg3821395
hg1921395
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5834872
Supporting Variants
Samples
Known GenesMYLK
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17484386
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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