A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5602502



Internal ID21551160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:19907277..19908878hg38UCSC Ensembl
chr17:19810590..19812191hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381602
hg191602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17085508
SamplesHG03065
Known GenesAKAP10
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5602502
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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