A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16293142



Internal ID20502360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11829587..11829587hg38UCSC Ensembl
chr1:11889644..11889644hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4760982
Supporting Variants
Samples
Known GenesCLCN6
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16293142
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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