A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17141280



Internal ID21419507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117861583..117863300hg38UCSC Ensembl
chr8:118873822..118875539hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg381718
hg191718
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5570821
Supporting Variants
SamplesHG00731
Known GenesEXT1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17141280
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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