A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5583168



Internal ID21531689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:157263220..157263274hg38UCSC Ensembl
chr7:157055914..157055968hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17146055
SamplesNA20847
Known GenesUBE3C
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5583168
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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