A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5940606



Internal ID22716017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45857519..45858677hg38UCSC Ensembl
chr19:46360777..46361935hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381159
hg191159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17408662
Samples
Known GenesSYMPK
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5940606
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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