A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17105199



Internal ID21407702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40583170..40583170hg38UCSC Ensembl
chr19:41089076..41089076hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5644881
Supporting Variants
SamplesHG00512
Known GenesSHKBP1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17105199
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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