A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5964181



Internal ID22739116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:111832937..111832937hg38UCSC Ensembl
chr2:112590514..112590514hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17393806
Samples
Known GenesANAPC1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5964181
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