A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5967430



Internal ID22742365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:81655169..81655169hg38UCSC Ensembl
chr3:81704320..81704320hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17413645
Samples
Known GenesGBE1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5967430
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