A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5611685



Internal ID21559990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112776447..112776447hg38UCSC Ensembl
chr2:113534024..113534024hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17107543
SamplesHG00731
Known GenesIL1A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5611685
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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