A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17111617



Internal ID21424387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:226143904..226143904hg38UCSC Ensembl
chr2:227008620..227008620hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5613889
Supporting Variants
SamplesHG00731
Known GenesLOC646736
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17111617
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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