A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17114978



Internal ID21408197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69956477..69956477hg38UCSC Ensembl
chr2:70183609..70183609hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5616543
Supporting Variants
SamplesHG00512
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17114978
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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