A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17154713



Internal ID21461310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124483013..124483013hg38UCSC Ensembl
chr8:125495254..125495254hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5627502
Supporting Variants
SamplesHG02818
Known GenesRNF139
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17154713
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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