A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17112675



Internal ID21503450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241011076..241011076hg38UCSC Ensembl
chr2:241950493..241950493hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5623840
Supporting Variants
SamplesNA19239
Known GenesSNED1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17112675
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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