A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512605



Internal ID289156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:37351713..37359713hg38UCSC Ensembl
chr14:37820918..37828918hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg388001
hg198001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696929
Samples
Known GenesMIPOL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512605
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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