A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17136292



Internal ID21417349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176451819..176451819hg38UCSC Ensembl
chr5:175878820..175878820hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5629609
Supporting Variants
SamplesHG00731
Known GenesFAF2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17136292
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer