A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5937672



Internal ID22713043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38548476..38693241hg38UCSC Ensembl
chr19:39039116..39183881hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38144766
hg19144766
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17396186
Samples
Known GenesACTN4, EIF3K, MAP4K1, RYR1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5937672
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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