A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17124512



Internal ID21487374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:53299884..53299884hg38UCSC Ensembl
chr5:52595714..52595714hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg381595
hg191595
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5628828
Supporting Variants
SamplesNA18534
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17124512
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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