A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17144078



Internal ID21471614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:157264462..157264517hg38UCSC Ensembl
chr7:157057156..157057211hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5575373
Supporting Variants
SamplesHG03125
Known GenesUBE3C
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17144078
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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