A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5598253



Internal ID21546877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137440892..137441054hg38UCSC Ensembl
chr9:140335344..140335506hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38163
hg19163
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17160951
SamplesHG00731
Known GenesENTPD8
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5598253
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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