A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5564800



Internal ID21513107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46240615..46240691hg38UCSC Ensembl
chr1:46706287..46706363hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17065514
SamplesHG03125
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5564800
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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