A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5595497



Internal ID21544103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:45872317..45873567hg38UCSC Ensembl
chr14:46341520..46342770hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg381251
hg191251
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17083035
SamplesNA18939
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5595497
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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