A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17121501



Internal ID21511756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:143461748..143461748hg38UCSC Ensembl
chr5:142841313..142841313hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5644483
Supporting Variants
SamplesNA24385
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17121501
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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