A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5608737



Internal ID21557042
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 StatusM
Merged Variants
Supporting Variantsnssv17063827
SamplesHG00512
Known GenesSDCCAG8
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5608737
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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