A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5978405



Internal ID22753340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40625281..40625281hg38UCSC Ensembl
chr19:41131186..41131186hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38221
hg19221
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17394021
Samples
Known GenesLTBP4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5978405
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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