A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17122188



Internal ID21452412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173067531..173067531hg38UCSC Ensembl
chr5:172494534..172494534hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg383800
hg193800
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5643527
Supporting Variants
SamplesHG01596
Known GenesCREBRF
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17122188
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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