A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5966954



Internal ID22741889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:124877551..124877551hg38UCSC Ensembl
chr4:125798706..125798706hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38228
hg19228
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17419583
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5966954
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