A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17080742



Internal ID21511031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:17252362..17252362hg38UCSC Ensembl
chr17:17155676..17155676hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5645366
Supporting Variants
SamplesNA24385
Known GenesCOPS3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17080742
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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