A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17065513



Internal ID21491165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46240191..46242953hg38UCSC Ensembl
chr1:46705863..46708625hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg382763
hg192763
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5581034
Supporting Variants
SamplesNA19238
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17065513
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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