A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5570791



Internal ID21519161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202471790..202472151hg38UCSC Ensembl
chr1:202440918..202441279hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38362
hg19362
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17062104
SamplesHG03065
Known GenesPPP1R12B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5570791
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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