A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5578461



Internal ID21526929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113130528..113130699hg38UCSC Ensembl
chr2:113888105..113888276hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17107553
SamplesHG00731
Known GenesIL1RN
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5578461
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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