A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17123053



Internal ID21482367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176885574..176885574hg38UCSC Ensembl
chr5:176312575..176312575hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg382500
hg192500
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5637327
Supporting Variants
SamplesHG03732
Known GenesHK3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17123053
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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