A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16285243



Internal ID20494461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:64239079..64239079hg38UCSC Ensembl
chr1:64704762..64704762hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4751005
Supporting Variants
Samples
Known GenesUBE2U
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16285243
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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