A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17524680



Internal ID21849038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28935453..28935453hg38UCSC Ensembl
chr1:29261965..29261965hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6050923
Supporting Variants
Samples
Known GenesEPB41
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17524680
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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