A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17148983



Internal ID21495506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:112074313..112074313hg38UCSC Ensembl
chr6:112395516..112395516hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38333
hg19333
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5633161
Supporting Variants
SamplesNA19238
Known GenesTUBE1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17148983
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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