A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5566954



Internal ID21515285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243362185..243362241hg38UCSC Ensembl
chr1:243525487..243525543hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17063831
SamplesNA20509
Known GenesSDCCAG8
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5566954
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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