A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5657604



Internal ID21605909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48818958..48818958hg38UCSC Ensembl
chr19:49322215..49322215hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17105787
SamplesNA19238
Known GenesHSD17B14
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5657604
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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