A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17100410



Internal ID21455562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8891934..8891934hg38UCSC Ensembl
chr17:8795251..8795251hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5649556
Supporting Variants
SamplesHG02011
Known GenesPIK3R5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17100410
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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