A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5621280



Internal ID21569585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:170781736..170781736hg38UCSC Ensembl
chr2:171638246..171638246hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17109663
SamplesHG00731
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5621280
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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