A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17031170



Internal ID88483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:134710889..134711017hg38UCSC Ensembl
chr9:137602735..137602863hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5484788
Supporting Variants
Samples
Known GenesCOL5A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17031170
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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