A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5562380



Internal ID335337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77685631..77685674hg38UCSC Ensembl
chr14:78151974..78152017hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38487
hg19487
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17699379
Samples
Known GenesALKBH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5562380
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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