A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17111136



Internal ID21455768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:19482590..19482590hg38UCSC Ensembl
chr2:19682351..19682351hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38440
hg19440
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5622111
Supporting Variants
SamplesHG02492
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17111136
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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