A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17155246



Internal ID21413465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:169242825..169242825hg38UCSC Ensembl
chr6:169642920..169642920hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38633
hg19633
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5638954
Supporting Variants
SamplesHG00513
Known GenesTHBS2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17155246
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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