A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5593317



Internal ID21541903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:68255399..68255768hg38UCSC Ensembl
chr17:66251540..66251909hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38370
hg19370
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17079844
SamplesHG02587
Known GenesAMZ2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5593317
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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