A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17419202



Internal ID22477072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45501801..45510565hg38UCSC Ensembl
chr3:45543293..45552057hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg388765
hg198765
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5892081
Supporting Variants
Samples
Known GenesLARS2, LARS2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17419202
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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