A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5972486



Internal ID22747421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:47537684..47537684hg38UCSC Ensembl
chr15:47829881..47829881hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38560
hg19560
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17382984
Samples
Known GenesSEMA6D
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5972486
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer