A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5597559



Internal ID21546175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:34443353..34443505hg38UCSC Ensembl
chr14:34912559..34912711hg19UCSC Ensembl
Cytoband14q13.1
Allele length
AssemblyAllele length
hg38153
hg19153
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17093161
SamplesHG00512
Known GenesSPTSSA
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5597559
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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