A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17138356



Internal ID21507844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:121961746..121961746hg38UCSC Ensembl
chr5:121297441..121297441hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5643193
Supporting Variants
SamplesNA20509
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17138356
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