A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17466288



Internal ID22524178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50282137..50288613hg38UCSC Ensembl
chr14:50748855..50755331hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg386477
hg196477
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5848492
Supporting Variants
Samples
Known GenesL2HGDH
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17466288
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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