A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17114571



Internal ID21462706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:59949215..59949215hg38UCSC Ensembl
chr2:60176350..60176350hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38336
hg19336
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5622294
Supporting Variants
SamplesHG03009
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17114571
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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