A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5632003



Internal ID21580308
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 StatusM
Merged Variants
Supporting Variantsnssv17137229
SamplesHG03065
Known GenesCOL23A1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5632003
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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