A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5658253



Internal ID21606558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:68979525..68979525hg38UCSC Ensembl
chr17:66975666..66975666hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17095180
SamplesHG00732
Known GenesABCA9
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5658253
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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