A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5581290



Internal ID21529787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:109199333..109199804hg38UCSC Ensembl
chr2:109815789..109816260hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38472
hg19472
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17107352
SamplesHG00731
Known GenesSH3RF3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5581290
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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