A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5648931



Internal ID21597236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:13936868..13936868hg38UCSC Ensembl
chr19:14047681..14047681hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17103314
SamplesHG00731
Known GenesPODNL1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5648931
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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