A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5617444



Internal ID21565749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10399478..10399478hg38UCSC Ensembl
chr2:10539604..10539604hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38804
hg19804
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17107442
SamplesHG00732
Known GenesHPCAL1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5617444
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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