A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16263263



Internal ID20472481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237975012..237975012hg38UCSC Ensembl
chr2:238883654..238883654hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4768167
Supporting Variants
Samples
Known GenesUBE2F, UBE2F-SCLY
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16263263
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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