A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17065550



Internal ID21443744
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 StatusS
Merged Variantsnsv5565726
Supporting Variants
SamplesHG00732
Known GenesSPATA6
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17065550
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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