A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5957020



Internal ID22732170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:23790532..23790532hg38UCSC Ensembl
chr10:24079461..24079461hg19UCSC Ensembl
Cytoband10p12.2
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17357885
Samples
Known GenesKIAA1217
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5957020
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