A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17143163



Internal ID21414156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:81684489..81684489hg38UCSC Ensembl
chr8:82596724..82596724hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5633202
Supporting Variants
SamplesHG00513
Known GenesIMPA1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17143163
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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