A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17138654



Internal ID21501550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:47613316..47613403hg38UCSC Ensembl
chr22:48009065..48009152hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5593192
Supporting Variants
SamplesNA19239
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17138654
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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