A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5587648



Internal ID21536206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:37380859..37381889hg38UCSC Ensembl
chr17:35737797..35738827hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg381031
hg191031
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17089096
SamplesNA19239
Known GenesACACA, C17orf78
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5587648
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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