A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5583639



Internal ID21532167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:108726419..108727228hg38UCSC Ensembl
chr2:109342875..109343684hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38810
hg19810
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17107509
SamplesHG00096
Known GenesRANBP2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5583639
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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