A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5499201



Internal ID276177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:65088834..65090601hg38UCSC Ensembl
chr14:65555552..65557319hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg381768
hg191768
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696767
Samples
Known GenesLOC100506321, MAX
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5499201
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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