A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17067007



Internal ID21462094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:83338951..83341953hg38UCSC Ensembl
chr1:83804634..83807636hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg383003
hg193003
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5578235
Supporting Variants
SamplesHG02818
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17067007
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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