A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5649041



Internal ID21597346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:74482697..74482697hg38UCSC Ensembl
chr17:72478836..72478836hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38412
hg19412
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17093797, nssv17098926
SamplesHG03486, HG00732
Known GenesCD300A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5649041
Frequency
Sample Size35
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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