A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5622356



Internal ID21570661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:116571269..116571269hg38UCSC Ensembl
chr1:117113891..117113891hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17060135
SamplesHG02587
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5622356
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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