A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5582512



Internal ID21531026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:208551379..208565378hg38UCSC Ensembl
chr1:208724724..208738723hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3814000
hg1914000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17062614
SamplesNA18534
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5582512
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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