A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17130596



Internal ID21490545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:213289..213289hg38UCSC Ensembl
chr5:213404..213404hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5643924
Supporting Variants
SamplesNA19238
Known GenesCCDC127
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17130596
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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