A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4389567



Internal ID21380702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10411811..10417684hg38UCSC Ensembl
chr2:10551937..10557810hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg385874
hg195874
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15705571
Samples
Known GenesHPCAL1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceWong_et_al_2019
Pubmed ID31340865
Accession Number(s)nsv4389567
Frequency
Sample Size174
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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