A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17121299



Internal ID21500053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173964480..173964480hg38UCSC Ensembl
chr5:173391483..173391483hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38188
hg19188
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5625368
Supporting Variants
SamplesNA19239
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17121299
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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