A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16290090



Internal ID20499308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12482747..12482747hg38UCSC Ensembl
chr1:12542802..12542802hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4755696
Supporting Variants
Samples
Known GenesVPS13D
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16290090
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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