A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5513570



Internal ID290089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23063640..23063708hg38UCSC Ensembl
chr14:23532849..23532917hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693954
Samples
Known GenesACIN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5513570
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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