A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5999750



Internal ID21909093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:45373653..45373744hg38UCSC Ensembl
chr5:45373755..45373846hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17543712
Samples
Known GenesHCN1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5999750
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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