A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5615445



Internal ID21563750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234267519..234267519hg38UCSC Ensembl
chr1:234403265..234403265hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17063288
SamplesHG03486
Known GenesSLC35F3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5615445
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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