A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501957



Internal ID278838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:93948637..93948734hg38UCSC Ensembl
chr14:94414983..94415080hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17699144
Samples
Known GenesASB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501957
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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