A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17129500



Internal ID21483885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173116752..173116752hg38UCSC Ensembl
chr5:172543755..172543755hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5644246
Supporting Variants
SamplesNA12329
Known GenesCREBRF
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17129500
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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