A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16285258



Internal ID20494476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44146453..44146453hg38UCSC Ensembl
chr6:44114190..44114190hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38929
hg19929
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4752348
Supporting Variants
Samples
Known GenesTMEM63B
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16285258
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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