A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5602488



Internal ID21551146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:17252332..17252401hg38UCSC Ensembl
chr17:17155646..17155715hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17084477
SamplesHG02011
Known GenesCOPS3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5602488
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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