A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5431214



Internal ID209997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:24683203..24683254hg38UCSC Ensembl
chr15:24928350..24928401hg19UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38196
hg19196
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17699953
Samples
Known GenesNPAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5431214
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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