A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17146257



Internal ID21485576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:74303582..74303582hg38UCSC Ensembl
chr8:75215817..75215817hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38347
hg19347
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5624979
Supporting Variants
SamplesNA12878
Known GenesJPH1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17146257
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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