A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5621060



Internal ID21569365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:176084264..176084264hg38UCSC Ensembl
chr2:176948992..176948992hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38997
hg19997
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17109841
SamplesHG02492
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5621060
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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