A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17376532



Internal ID22602201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45228283..45228283hg38UCSC Ensembl
chr13:45802418..45802418hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5967804
Supporting Variants
Samples
Known GenesGTF2F2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17376532
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