A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5627366



Internal ID21575671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:134710597..134710597hg38UCSC Ensembl
chr9:137602443..137602443hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38259
hg19259
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17160500
SamplesNA19239
Known GenesCOL5A1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5627366
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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