A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5570595



Internal ID21518963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12683395..12686536hg38UCSC Ensembl
chr1:12743405..12746547hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg383142
hg193143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17060923
SamplesHG02587
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5570595
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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