A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5957362



Internal ID22732486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:111833681..111833681hg38UCSC Ensembl
chr2:112591258..112591258hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38196
hg19196
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17402201
Samples
Known GenesANAPC1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5957362
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