A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17144784



Internal ID21452109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:53861063..53861063hg38UCSC Ensembl
chr8:54773623..54773623hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg384500
hg194500
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5643958
Supporting Variants
SamplesHG01596
Known GenesRGS20
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17144784
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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