A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16272803



Internal ID20482021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:104057447..104057447hg38UCSC Ensembl
chr10:105817205..105817205hg19UCSC Ensembl
Cytoband10q25.1
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4751383
Supporting Variants
Samples
Known GenesCOL17A1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16272803
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer