A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17134693



Internal ID21416638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178294219..178294432hg38UCSC Ensembl
chr5:177721220..177721433hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38214
hg19214
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5579366
Supporting Variants
SamplesHG00731
Known GenesCOL23A1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17134693
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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