A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17091868



Internal ID21474225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70758421..70758421hg38UCSC Ensembl
chr12:71152201..71152201hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5659239
Supporting Variants
SamplesHG03371
Known GenesPTPRR
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17091868
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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