A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17061252



Internal ID21506231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16132929..16132929hg38UCSC Ensembl
chr1:16459424..16459424hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5614211
Supporting Variants
SamplesNA19983
Known GenesEPHA2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17061252
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