A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17146992



Internal ID21477055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:69230824..69230824hg38UCSC Ensembl
chr8:70143059..70143059hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5625704
Supporting Variants
SamplesHG03486
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17146992
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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