A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17063827



Internal ID21405530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243327259..243327259hg38UCSC Ensembl
chr1:243490561..243490561hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5608737
Supporting Variants
SamplesHG00512
Known GenesSDCCAG8
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17063827
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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