A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17372256



Internal ID22597925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:100295913..100430554hg38UCSC Ensembl
chr15:100836118..100970759hg19UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38134642
hg19134642
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5928853
Supporting Variants
Samples
Known GenesADAMTS17, CERS3, SPATA41
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17372256
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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