A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5591842



Internal ID21540420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:44969848..44970990hg38UCSC Ensembl
chr19:45473105..45474247hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381143
hg191143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17105301
SamplesHG00512
Known GenesCLPTM1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5591842
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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