A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5940028



Internal ID22715431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73247468..73247681hg38UCSC Ensembl
chr14:73714176..73714389hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38214
hg19214
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17378540
Samples
Known GenesPAPLN
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5940028
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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