A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4392377



Internal ID21383407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40563591..40563823hg38UCSC Ensembl
chr19:41069497..41069729hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15706444
Samples
Known GenesSPTBN4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceWong_et_al_2019
Pubmed ID31340865
Accession Number(s)nsv4392377
Frequency
Sample Size174
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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