A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5598664



Internal ID21547291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:127464362..127464417hg38UCSC Ensembl
chr9:130226641..130226696hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17159775
SamplesHG00512
Known GenesLRSAM1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5598664
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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