A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507983



Internal ID284687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:96364934..96366310hg38UCSC Ensembl
chr14:96831271..96832647hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg381377
hg191377
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698689
Samples
Known GenesGSKIP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507983
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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