A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17085543



Internal ID21452160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44970306..44970306hg38UCSC Ensembl
chr17:43047674..43047674hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg385000
hg195000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5664093
Supporting Variants
SamplesHG01596
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17085543
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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