A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5663813



Internal ID21612118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:3649603..3649603hg38UCSC Ensembl
chr19:3649601..3649601hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg383455
hg193455
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17104300
SamplesNA12329
Known GenesPIP5K1C
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5663813
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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