A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5621553



Internal ID21569858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241607733..241607733hg38UCSC Ensembl
chr2:242547148..242547148hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17112361
SamplesHG03683
Known GenesTHAP4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5621553
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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