A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5656244



Internal ID21604549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40500081..40500081hg38UCSC Ensembl
chr19:41005988..41005988hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17105197
SamplesHG00732
Known GenesSPTBN4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5656244
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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