A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17145987



Internal ID21498690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:58612516..58612516hg38UCSC Ensembl
chr5:57908343..57908343hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5642640
Supporting Variants
SamplesNA19239
Known GenesRAB3C
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17145987
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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