A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5971495



Internal ID22746430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:15364085..15364085hg38UCSC Ensembl
chr19:15474896..15474896hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38210
hg19210
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17395108
Samples
Known GenesAKAP8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5971495
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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