A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17146055



Internal ID21509348
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 StatusS
Merged Variantsnsv5583168
Supporting Variants
SamplesNA20847
Known GenesUBE3C
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17146055
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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