A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16263751



Internal ID20472969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12415604..12415604hg38UCSC Ensembl
chr1:12475657..12475657hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg382159
hg192159
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4759387
Supporting Variants
Samples
Known GenesVPS13D
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16263751
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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