A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5650441



Internal ID21598746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:19964602..19964602hg38UCSC Ensembl
chr17:19867915..19867915hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg382646
hg192646
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17080226
SamplesNA18939
Known GenesAKAP10
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5650441
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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