A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17131104



Internal ID21494277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137868839..137868839hg38UCSC Ensembl
chr5:137204528..137204528hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5643385
Supporting Variants
SamplesNA19238
Known GenesMYOT
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17131104
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