A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5946497



Internal ID22721988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:30962801..30963677hg38UCSC Ensembl
chr14:31432007..31432883hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38877
hg19877
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17377487
Samples
Known GenesSTRN3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5946497
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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