A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5578842



Internal ID21527315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:70481421..70481489hg38UCSC Ensembl
chr4:71347138..71347206hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17121482
SamplesNA24385
Known GenesMUC7
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5578842
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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