A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5574993



Internal ID21523416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:209904709..209912624hg38UCSC Ensembl
chr1:210078054..210085969hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg387916
hg197916
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17062638
SamplesHG00731
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5574993
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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