A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5656820



Internal ID21605125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48810823..48810823hg38UCSC Ensembl
chr17:46888185..46888185hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17090513
SamplesHG00512
Known GenesTTLL6
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5656820
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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