A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17118062



Internal ID21510127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:9624549..9624549hg38UCSC Ensembl
chr20:9605196..9605196hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5668858
Supporting Variants
SamplesNA24385
Known GenesPAK7
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17118062
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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