A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16271544



Internal ID20480762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215646390..215646390hg38UCSC Ensembl
chr1:215819732..215819732hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4766173
Supporting Variants
Samples
Known GenesUSH2A
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16271544
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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