A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5980176



Internal ID22755111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14184633..14184633hg38UCSC Ensembl
chr19:14295445..14295445hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17389641
Samples
Known GenesLPHN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5980176
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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