A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5611651



Internal ID21559956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:171103264..171103264hg38UCSC Ensembl
chr2:171959774..171959774hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17109761
SamplesHG02011
Known GenesTLK1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5611651
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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