A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974283



Internal ID22749218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30391737..30391737hg38UCSC Ensembl
chr13:30965874..30965874hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38642
hg19642
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17379655
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974283
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