A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16276089



Internal ID20485307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:134710535..134710600hg38UCSC Ensembl
chr9:137602381..137602446hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4748192
Supporting Variants
Samples
Known GenesCOL5A1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16276089
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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