A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5621074



Internal ID21569379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:162791518..162791518hg38UCSC Ensembl
chr1:162761308..162761308hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17061494
SamplesHG00731
Known GenesHSD17B7
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5621074
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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