A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5566564



Internal ID21514892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:65147917..65147966hg38UCSC Ensembl
chr1:65613600..65613649hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17065703
SamplesHG01114
Known GenesAK4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5566564
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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