A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17135266



Internal ID21484350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:158699249..158699249hg38UCSC Ensembl
chr5:158126257..158126257hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5635447
Supporting Variants
SamplesNA12329
Known GenesEBF1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17135266
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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