A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17137229



Internal ID21464739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178302322..178302322hg38UCSC Ensembl
chr5:177729323..177729323hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5632003
Supporting Variants
SamplesHG03065
Known GenesCOL23A1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17137229
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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