A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5965538



Internal ID22740473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:68735316..68735316hg38UCSC Ensembl
chr9:71350232..71350232hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg38188
hg19188
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17430226
Samples
Known GenesPIP5K1B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5965538
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