A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17383622



Internal ID22441492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:34962422..35000319hg38UCSC Ensembl
chr14:35431628..35469525hg19UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg3837898
hg1937898
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5936662
Supporting Variants
Samples
Known GenesSRP54
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17383622
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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