A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5565726



Internal ID21514041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48382473..48382642hg38UCSC Ensembl
chr1:48848145..48848314hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38170
hg19170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17065550
SamplesHG00732
Known GenesSPATA6
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5565726
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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