A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17105127



Internal ID21441998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49169391..49169391hg38UCSC Ensembl
chr19:49672648..49672648hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg382757
hg192757
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5650707
Supporting Variants
SamplesHG00732
Known GenesTRPM4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17105127
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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