A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5594970



Internal ID21543572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:19749745..19749942hg38UCSC Ensembl
chr14:20217904..20218101hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38198
hg19198
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17098047
SamplesHG03065
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5594970
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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